MYP0_HUMAN
ID MYP0_HUMAN Reviewed; 248 AA.
AC P25189; Q16072; Q5VTH4; Q92677; Q9BR67;
DT 01-MAY-1992, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-1992, sequence version 1.
DT 03-AUG-2022, entry version 231.
DE RecName: Full=Myelin protein P0;
DE AltName: Full=Myelin peripheral protein;
DE Short=MPP;
DE AltName: Full=Myelin protein zero;
DE Flags: Precursor;
GN Name=MPZ;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Fetal spinal cord;
RX PubMed=1719967; DOI=10.1016/s0006-291x(05)81094-0;
RA Hayasaka K., Nanao K., Tahara M., Sato W., Takada G., Miura M., Uyemura K.;
RT "Isolation and sequence determination of cDNA encoding the major structural
RT protein of human peripheral myelin.";
RL Biochem. Biophys. Res. Commun. 180:515-518(1991).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), AND VARIANT CMT1B
RP HIS-98.
RC TISSUE=Spinal cord;
RX PubMed=7688964; DOI=10.1006/bbrc.1993.1968;
RA Hayasaka K., Ohnishi A., Takada G., Fukushima Y., Murai Y.;
RT "Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1.";
RL Biochem. Biophys. Res. Commun. 194:1317-1322(1993).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=7509228; DOI=10.1093/hmg/2.12.2051;
RA Pham-Dinh D., Fourbil Y., Blanquet F., Mattei M.-G., Roeckel N., Latour P.,
RA Chazot G., Vandenberghe A., Dautigny A.;
RT "The major peripheral myelin protein zero gene: structure and localization
RT in the cluster of Fc gamma receptor genes on human chromosome 1q21.3-q23.";
RL Hum. Mol. Genet. 2:2051-2054(1993).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Pericardium;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [9]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-115 (ISOFORM 1), AND VARIANT CMT1B SER-63
RP DEL.
RX PubMed=7693130; DOI=10.1038/ng0993-35;
RA Kulkens T., Bolhuis P.A., Wolterman R.A., Kemp S., Te Nijenhuis S.,
RA Valentijn L.J., Hensels G.W., Jennekens F.G., de Visser M.,
RA Hoogendijk J.E., Baas F.;
RT "Deletion of the serine 34 codon from the major peripheral myelin protein
RT P0 gene in Charcot-Marie-Tooth disease type 1B.";
RL Nat. Genet. 5:35-39(1993).
RN [10]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 24-248, AND VARIANT CMT1B GLU-134.
RX PubMed=7530774; DOI=10.1136/jmg.31.10.811;
RA Nelis E., Timmerman V., De Jonghe P., Muylle L., Martin J.-J.,
RA Van Broeckhoven C.;
RT "Linkage and mutation analysis in an extended family with Charcot-Marie-
RT Tooth disease type 1B.";
RL J. Med. Genet. 31:811-815(1994).
RN [11]
RP PARTIAL PROTEIN SEQUENCE (ISOFORM L-MPZ), ALTERNATIVE SPLICING, AND
RP SUBCELLULAR LOCATION (ISOFORM L-MPZ).
RC TISSUE=PNS;
RX PubMed=22457349; DOI=10.1074/jbc.m111.314468;
RA Yamaguchi Y., Hayashi A., Campagnoni C.W., Kimura A., Inuzuka T., Baba H.;
RT "L-MPZ, a novel isoform of myelin P0, is produced by stop codon
RT readthrough.";
RL J. Biol. Chem. 287:17765-17776(2012).
RN [12]
RP REVIEW ON CMT1B VARIANTS.
RX PubMed=7762451; DOI=10.1007/978-1-4757-9062-7_3;
RA Roa B.B., Lupski J.R.;
RT "Molecular genetics of Charcot-Marie-Tooth neuropathy.";
RL Adv. Hum. Genet. 22:117-152(1994).
RN [13]
RP REVIEW ON CMT1B VARIANTS.
RX PubMed=7518101; DOI=10.1016/0168-9525(94)90214-3;
RA Patel P.I., Lupski J.R.;
RT "Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited
RT disease.";
RL Trends Genet. 10:128-133(1994).
RN [14]
RP REVIEW ON CMT1B AND DSS VARIANTS.
RX PubMed=9888385;
RX DOI=10.1002/(sici)1098-1004(1999)13:1<11::aid-humu2>3.0.co;2-a;
RA Nelis E., Haites N., van Broeckhoven C.;
RT "Mutations in the peripheral myelin genes and associated genes in inherited
RT peripheral neuropathies.";
RL Hum. Mutat. 13:11-28(1999).
RN [15]
RP X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 30-150, SUBUNIT, AND DISULFIDE
RP BOND.
RX PubMed=21971831; DOI=10.1002/prot.23164;
RA Liu Z., Wang Y., Yedidi R.S., Brunzelle J.S., Kovari I.A., Sohi J.,
RA Kamholz J., Kovari L.C.;
RT "Crystal structure of the extracellular domain of human myelin protein
RT zero.";
RL Proteins 80:307-313(2012).
RN [16]
RP VARIANT CMT1B MET-30.
RX PubMed=7694726; DOI=10.1093/hmg/2.9.1369;
RA Hayasaka K., Takada G., Ionasescu V.V.;
RT "Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type
RT 1B.";
RL Hum. Mol. Genet. 2:1369-1372(1993).
RN [17]
RP VARIANT CMT1B CYS-82.
RX PubMed=7505151;
RA Himoro M., Yoshikawa H., Matsui T., Mitsui Y., Takahashi M., Kaido M.,
RA Nishimura T., Sawaishi Y., Takada G., Hayasaka K.;
RT "New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth
RT neuropathy 1.";
RL Biochem. Mol. Biol. Int. 31:169-173(1993).
RN [18]
RP VARIANTS CMT1B GLU-90 AND GLU-96.
RX PubMed=7693129; DOI=10.1038/ng0993-31;
RA Hayasaka K., Himoro M., Sato W., Takada G., Uyemura K., Shimizu N.,
RA Bird T.D., Conneally P.M., Chance P.F.;
RT "Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the
RT myelin P0 gene.";
RL Nat. Genet. 5:31-34(1993).
RN [19]
RP VARIANTS CMT1B GLU-96 AND 216-THR DELINS GLU-ARG.
RX PubMed=7504284; DOI=10.1073/pnas.90.22.10856;
RA Su Y., Brooks D.G., Li L., Lepercq J., Trofatter J.A., Ravetch J.V.,
RA Lebo R.V.;
RT "Myelin protein zero gene mutated in Charcot-Marie-Tooth type 1B
RT patients.";
RL Proc. Natl. Acad. Sci. U.S.A. 90:10856-10860(1993).
RN [20]
RP VARIANTS DSS CYS-63 AND ARG-167.
RX PubMed=7506095; DOI=10.1038/ng1193-266;
RA Hayasaka K., Himoro M., Sawaishi Y., Nanao K., Takahashi T., Takada G.,
RA Nicholson G.A., Ouvrier R.A., Tachi N.;
RT "De novo mutation of the myelin P0 gene in Dejerine-Sottas disease
RT (hereditary motor and sensory neuropathy type III).";
RL Nat. Genet. 5:266-268(1993).
RN [21]
RP VARIANTS CMT1B LEU-78 AND ASN-134.
RX PubMed=7527371; DOI=10.1007/bf00206959;
RA Nelis E., Timmerman V., de Jonghe P., Vandenberghe A., Pham-Dinh D.,
RA Dautigny A., Martin J.-J., van Broeckhoven C.;
RT "Rapid screening of myelin genes in CMT1 patients by SSCP analysis:
RT identification of new mutations and polymorphisms in the P0 gene.";
RL Hum. Genet. 94:653-657(1994).
RN [22]
RP VARIANT CMT1B PHE-63.
RX PubMed=8835320; DOI=10.1111/j.1399-0004.1995.tb04109.x;
RA Blanquet-Grossard F., Pham-Dinh D., Dautigny A., Latour P., Bonnebouche C.,
RA Corbillon E., Chazot G., Vandenberghe A.;
RT "Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon
RT in the major peripheral myelin glycoprotein PO gene.";
RL Clin. Genet. 48:281-283(1995).
RN [23]
RP VARIANTS CMT1B LEU-78 AND CYS-101.
RX PubMed=7550231; DOI=10.1002/humu.1380060110;
RA Latour P., Blanquet F., Nelis E., Bonnebouche C., Chapon F., Diraison P.,
RA Ollagnon E., Dautigny A., Pham-Dinh D., Chazot G., Boucherat M.,
RA van Broeckhoven C., Vandenberghe A.;
RT "Mutations in the myelin protein zero gene associated with Charcot-Marie-
RT Tooth disease type 1B.";
RL Hum. Mutat. 6:50-54(1995).
RN [24]
RP VARIANT DSS PHE-64 DEL.
RX PubMed=8630052; DOI=10.1006/bbrc.1996.0705;
RA Ikegami T., Nicholson G.A., Ikeda H., Ishida A., Johnston H., Wise G.,
RA Ouvrier R.A., Hayasaka K.;
RT "A novel homozygous mutation of the myelin Po gene producing Dejerine-
RT Sottas disease (hereditary motor and sensory neuropathy type III).";
RL Biochem. Biophys. Res. Commun. 222:107-110(1996).
RN [25]
RP VARIANTS CMT1B THR-135 AND SER-137.
RX PubMed=8664899;
RX DOI=10.1002/(sici)1098-1004(1996)7:1<36::aid-humu5>3.0.co;2-n;
RA Roa B.B., Warner L.E., Garcia C.A., Russo D., Lovelace R., Chance P.F.,
RA Lupski J.R.;
RT "Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-
RT Marie-Tooth disease.";
RL Hum. Mutat. 7:36-45(1996).
RN [26]
RP VARIANT CMT1B SER-122.
RX PubMed=8844219;
RX DOI=10.1002/(sici)1098-1004(1996)8:2<185::aid-humu13>3.0.co;2-z;
RA Blanquet-Grossard F., Pham-Dinh D., Dautigny A., Latour P., Bonnebouche C.,
RA Diraison P., Chapon F., Chazot G., Vandenberghe A.;
RT "Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single
RT glycosylation site in the major peripheral myelin glycoprotein Po.";
RL Hum. Mutat. 8:185-186(1996).
RN [27]
RP VARIANTS CMT1B/DSS ILE-34; CYS-98; HIS-98; ARG-130 AND LEU-135.
RX PubMed=8797476; DOI=10.1212/wnl.47.3.761;
RA Gabreeels-Festen A.A.W.M., Hoogendijk J.E., Meijerink P.H.,
RA Gabreeels F.J.M., Bolhuis P.A., van Beersum S., Kulkens T., Nelis E.,
RA Jennekens F.G., de Visser M., van Engelen B.G., van Broeckhoven C.,
RA Mariman E.C.;
RT "Two divergent types of nerve pathology in patients with different P0
RT mutations in Charcot-Marie-Tooth disease.";
RL Neurology 47:761-765(1996).
RN [28]
RP VARIANTS CMT1B CYS-98 AND SER-98, VARIANT DSS CYS-98, AND VARIANT CHN2
RP 215-GLN--LYS-248 DEL.
RX PubMed=8816708; DOI=10.1016/s0896-6273(00)80177-4;
RA Warner L.E., Hilz M.J., Appel S.H., Killian J.M., Kolodry E.H., Karpati G.,
RA Carpenter S., Watters G.V., Wheeler C., Witt D., Bodell A., Nelis E.,
RA van Broeckhoven C., Lupski J.R.;
RT "Clinical phenotypes of different MPZ (P0) mutations may include Charcot-
RT Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.";
RL Neuron 17:451-460(1996).
RN [29]
RP VARIANT CMT1B GLU-93.
RX PubMed=9217235;
RX DOI=10.1002/(sici)1096-8628(19970808)71:2<246::aid-ajmg28>3.0.co;2-d;
RA Ikegami T., Ikeda H., Mitsui T., Hayasaka K., Ishii S.;
RT "Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-
RT Tooth disease type 1B.";
RL Am. J. Med. Genet. 71:246-248(1997).
RN [30]
RP VARIANT CMT1B LEU-78, AND VARIANT DSS CYS-98.
RX PubMed=9187667; DOI=10.1007/s004390050442;
RA Bort S., Nelis E., Timmerman V., Sevilla T., Cruz-Martinez A., Martinez F.,
RA Millan J.M., Arpa J., Vilchez J.J., Prieto F., van Broeckhoven C.,
RA Palau F.;
RT "Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of
RT Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy
RT with liability to pressure palsies.";
RL Hum. Genet. 99:746-754(1997).
RN [31]
RP VARIANT CMT1B ARG-81.
RX PubMed=8990016;
RX DOI=10.1002/(sici)1098-1004(1997)9:1<74::aid-humu16>3.0.co;2-m;
RA Sorour E., Macmillan J., Upadhyaya M.;
RT "Novel mutation of the myelin P0 gene in a CMT1B family.";
RL Hum. Mutat. 9:74-77(1997).
RN [32]
RP VARIANTS DSS THR-114; HIS-116 AND ASN-128.
RX PubMed=9222756;
RX DOI=10.1002/(sici)1098-1004(1997)10:1<21::aid-humu3>3.0.co;2-p;
RA Warner L.E., Shohat M., Shorer Z., Lupski J.R.;
RT "Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas
RT case.";
RL Hum. Mutat. 10:21-24(1997).
RN [33]
RP VARIANT DSS PHE-TYR-118 INS.
RX PubMed=9452055; DOI=10.1002/humu.1380110134;
RA Ikegami T., Nicholson G.A., Ikeda H., Ishida A., Johnston H., Wise G.,
RA Ouvrier R.A., Hayasaka K.;
RT "De novo mutation of the myelin P0 gene in Dejerine-Sottas disease
RT (hereditary motor and sensory neuropathy type III): two amino acid
RT insertion after Asp 118.";
RL Hum. Mutat. Suppl. 1:S103-S105(1998).
RN [34]
RP VARIANT CMT1B MET-124, AND VARIANT DSS 124-THR-PHE-125 DEL.
RX PubMed=9452091; DOI=10.1002/humu.1380110170;
RA Schiavon F., Rampazzo A., Merlini L., Angelini C., Mostacciuolo M.L.;
RT "Mutations of the same sequence of the myelin P0 gene causing two different
RT phenotypes.";
RL Hum. Mutat. Suppl. 1:S217-S219(1998).
RN [35]
RP VARIANTS CMT1B PHE-58; CYS-68; THR-112; LEU-132 AND ALA-167.
RX PubMed=9452099; DOI=10.1002/humu.1380110178;
RA Sorour E., Upadhyaya M.;
RT "Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).";
RL Hum. Mutat. Suppl. 1:S242-S247(1998).
RN [36]
RP VARIANT CMT1B LEU-78, AND VARIANT DSS CYS-82.
RX PubMed=9633821;
RX DOI=10.1002/(sici)1098-1004(1998)12:1<59::aid-humu9>3.0.co;2-a;
RA Silander K., Meretoja P., Juvonen V., Ignatius J., Pihko H., Saarinen A.,
RA Wallden T., Herrgaard E., Aula P., Savontaus M.-L.;
RT "Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease
RT and related neuropathies.";
RL Hum. Mutat. 12:59-68(1998).
RN [37]
RP VARIANT CMT2I PHE-44.
RX PubMed=9595994; DOI=10.1212/wnl.50.5.1397;
RA Marrosu M.G., Vaccargiu S., Marrosu G., Vannelli A., Cianchetti C.,
RA Muntoni F.;
RT "Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin
RT protein zero gene.";
RL Neurology 50:1397-1401(1998).
RN [38]
RP VARIANT CHN2 215-GLN--LYS-248 DEL, AND INVOLVEMENT IN CHN2.
RX PubMed=10319895;
RX DOI=10.1002/1531-8249(199905)45:5<676::aid-ana21>3.0.co;2-k;
RA Mandich P., Mancardi G.L., Varese A., Soriani S., Di Maria E., Bellone E.,
RA Bado M., Gross L., Windebank A.J., Ajmar F., Schenone A.;
RT "Congenital hypomyelination due to myelin protein zero Q215X mutation.";
RL Ann. Neurol. 45:676-678(1999).
RN [39]
RP VARIANT ROULS LYS-131.
RX PubMed=10553995;
RX DOI=10.1002/1531-8249(199911)46:5<770::aid-ana13>3.0.co;2-u;
RA Plante-Bordeneuve V., Guiochon-Mantel A., Lacroix C., Lapresle J., Said G.;
RT "The Roussy-Levy family: from the original description to the gene.";
RL Ann. Neurol. 46:770-773(1999).
RN [40]
RP VARIANT CMT2J MET-124.
RX PubMed=10071056; DOI=10.1093/brain/122.2.281;
RA De Jonghe P., Timmerman V., Ceuterick C., Nelis E., De Vriendt E.,
RA Lofgren A., Vercruyssen A., Verellen C., Van Maldergem L., Martin J.-J.,
RA Van Broeckhoven C.;
RT "The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is
RT associated with a clinically distinct Charcot-Marie-Tooth phenotype.";
RL Brain 122:281-290(1999).
RN [41]
RP VARIANT CMT1B PRO-54.
RA Bissar-Tadmouri N., Latour P., Gulsen-Parman Y., Deymeer F., Serdaroglu P.,
RA Ozdemir C., Vandenberghe A.;
RT "Novel mutations of the myelin P0 gene in two Charcot-Marie-Tooth type 1
RT patients from Turkey.";
RL Eur. J. Hum. Genet. Suppl. 7:116-116(1999).
RN [42]
RP VARIANT CMT2 MET-124.
RX PubMed=10329755; DOI=10.1136/jnnp.66.6.779;
RA Chapon F., Latour P., Diraison P., Schaeffer S., Vandenberghe A.;
RT "Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation
RT in the myelin protein zero gene.";
RL J. Neurol. Neurosurg. Psych. 66:779-782(1999).
RN [43]
RP VARIANT CMTDID TYR-35.
RX PubMed=10406984; DOI=10.1136/jnnp.67.2.174;
RA Mastaglia F.L., Nowak K.J., Stell R., Phillips B.A., Edmondston J.E.,
RA Dorosz S.M., Wilton S.D., Hallmayer J., Kakulas B.A., Laing N.G.;
RT "Novel mutation in the myelin protein zero gene in a family with
RT intermediate hereditary motor and sensory neuropathy.";
RL J. Neurol. Neurosurg. Psych. 67:174-179(1999).
RN [44]
RP VARIANT CMT1B PHE-62.
RX PubMed=10214757; DOI=10.1212/wnl.52.6.1271;
RA Nakagawa M., Suehara M., Saito A., Takashima H., Umehara F., Saito M.,
RA Kanzato N., Matsuzaki T., Takenaga S., Sakoda S., Izumo S., Osame M.;
RT "A novel MPZ gene mutation in dominantly inherited neuropathy with focally
RT folded myelin sheaths.";
RL Neurology 52:1271-1275(1999).
RN [45]
RP VARIANT CMT1B ASN-109, AND FUNCTION.
RX PubMed=10545037; DOI=10.1016/s0960-8966(99)00031-0;
RA Lagueny A., Latour P., Vital A., Rajabally Y., Le Masson G., Ferrer X.,
RA Bernard I., Julien J., Vital C., Vandenberghe A.;
RT "Peripheral myelin modification in CMT1B correlates with MPZ gene
RT mutations.";
RL Neuromuscul. Disord. 9:361-367(1999).
RN [46]
RP VARIANT CMT1B LEU-78.
RX PubMed=10965800; DOI=10.1007/s004019900175;
RA Fabrizi G.M., Taioli F., Cavallaro T., Rigatelli F., Simonati A.,
RA Mariani G., Perrone P., Rizzuto N.;
RT "Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with
RT Ser49Leu in the myelin protein zero.";
RL Acta Neuropathol. 100:299-304(2000).
RN [47]
RP VARIANTS CMT2I GLY-61 AND CYS-119.
RX PubMed=10764043; DOI=10.1111/j.1750-3639.2000.tb00257.x;
RA Senderek J., Hermanns B., Lehmann U., Bergmann C., Marx G., Kabus C.,
RA Timmerman V., Stoltenburg-Didinger G., Schroder J.M.;
RT "Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel
RT amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible 'hotspot' on
RT Thr124Met.";
RL Brain Pathol. 10:235-248(2000).
RN [48]
RP VARIANTS CMT1B HIS-98; GLY-134; GLU-134; THR-135; ASN-138 AND ASN-139.
RX PubMed=10737979;
RX DOI=10.1002/(sici)1098-1004(200004)15:4<340::aid-humu6>3.0.co;2-y;
RA Mersiyanova I.V., Ismailov S.M., Polyakov A.V., Dadali E.L., Fedotov V.P.,
RA Nelis E., Loefgren A., Timmerman V., Van Broeckhoven C., Evgrafov O.V.;
RT "Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32
RT (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.";
RL Hum. Mutat. 15:340-347(2000).
RN [49]
RP VARIANTS CMT PHE-32; CYS-68; MET-124 AND ARG-130.
RX PubMed=10923043;
RX DOI=10.1002/1098-1004(200008)16:2<177::aid-humu14>3.0.co;2-5;
RA Yoshihara T., Yamamoto M., Doyu M., Misu K., Hattori N., Hasegawa Y.,
RA Mokuno K., Mitsuma T., Sobue G.;
RT "Mutations in the peripheral myelin protein zero and connexin32 genes
RT detected by non-isotopic RNase cleavage assay and their phenotypes in
RT Japanese patients with Charcot-Marie-Tooth disease.";
RL Hum. Mutat. 16:177-178(2000).
RN [50]
RP VARIANTS CMT2J VAL-75 AND MET-124.
RX PubMed=11080237; DOI=10.1136/jnnp.69.6.806;
RA Misu K., Yoshihara T., Shikama Y., Awaki E., Yamamoto M., Hattori N.,
RA Hirayama M., Takegami T., Nakashima K., Sobue G.;
RT "An axonal form of Charcot-Marie-Tooth disease showing distinctive features
RT in association with mutations in the peripheral myelin protein zero gene
RT (Thr124Met or Asp75Val).";
RL J. Neurol. Neurosurg. Psych. 69:806-811(2000).
RN [51]
RP VARIANTS CMT1B PHE-63 AND MET-124, AND VARIANTS DSS CYS-98 AND
RP 124-THR-PHE-125 DEL.
RX PubMed=11438991; DOI=10.1002/humu.1147;
RA Mostacciuolo M.L., Righetti E., Zortea M., Bosello V., Schiavon F.,
RA Vallo L., Merlini L., Siciliano G., Fabrizi G.M., Rizzuto N., Milani M.,
RA Baratta S., Taroni F.;
RT "Charcot-Marie-Tooth disease type I and related demyelinating neuropathies:
RT mutation analysis in a large cohort of Italian families.";
RL Hum. Mutat. 18:32-41(2001).
RN [52]
RP VARIANTS CMT1B PHE-51; LEU-78 AND HIS-98.
RX PubMed=11437164; DOI=10.1007/s004150170183;
RA Young P., Grote K., Kuhlenbaeumer G., Debus O., Kurlemann H., Halfter H.,
RA Funke H., Ringelstein E.B., Stoegbauer F.;
RT "Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations
RT in the MPZ gene and the GJB1 gene cause comparable phenotypic
RT heterogeneity.";
RL J. Neurol. 248:410-415(2001).
RN [53]
RP VARIANTS DSS VAL-42 DEL AND THR-221.
RX PubMed=11596785; DOI=10.1007/s004150170096;
RA Plante-Bordeneuve V., Parman Y., Guiochon-Mantel A., Alj Y., Deymeer F.,
RA Serdaroglu P., Eraksoy M., Said G.;
RT "The range of chronic demyelinating neuropathy of infancy: a clinico-
RT pathological and genetic study of 15 unrelated cases.";
RL J. Neurol. 248:795-803(2001).
RN [54]
RP VARIANT CMT1B GLU-103.
RX PubMed=11445635; DOI=10.1212/wnl.57.1.101;
RA Fabrizi G.M., Ferrarini M., Cavallaro T., Jarre L., Polo A., Rizzuto N.;
RT "A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive
RT inheritance of CMT1B.";
RL Neurology 57:101-105(2001).
RN [55]
RP VARIANTS CMT1B LEU-78 AND CYS-82, VARIANTS CMT2I ASN-89; MET-92 AND
RP MET-162, AND VARIANTS DSS CYS-123 AND GLU-136.
RX PubMed=11835375; DOI=10.1002/ana.10089;
RA Boerkoel C.F., Takashima H., Garcia C.A., Olney R.K., Johnson J., Berry K.,
RA Russo P., Kennedy S., Teebi A.S., Scavina M., Williams L.L., Mancias P.,
RA Butler I.J., Krajewski K., Shy M., Lupski J.R.;
RT "Charcot-Marie-Tooth disease and related neuropathies: mutation
RT distribution and genotype-phenotype correlation.";
RL Ann. Neurol. 51:190-201(2002).
RN [56]
RP VARIANTS CMT1B SER-63 DEL; ILE-65; CYS-68; CYS-82; MET-124; ARG-163 AND
RP ARG-170, AND VARIANTS CMT2 VAL-75 AND ILE-113.
RX PubMed=12402337; DOI=10.1002/humu.10134;
RA Numakura C., Lin C., Ikegami T., Guldberg P., Hayasaka K.;
RT "Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease:
RT DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.";
RL Hum. Mutat. 20:392-398(2002).
RN [57]
RP VARIANT CMT1B HIS-98.
RX PubMed=12221176; DOI=10.1212/wnl.59.5.767;
RA Watanabe M., Yamamoto N., Ohkoshi N., Nagata H., Kohno Y., Hayashi A.,
RA Tamaoka A., Shoji S.;
RT "Corticosteroid-responsive asymmetric neuropathy with a myelin protein zero
RT gene mutation.";
RL Neurology 59:767-769(2002).
RN [58]
RP VARIANTS CMT TYR-81 AND PHE-113.
RX PubMed=11801400; DOI=10.1016/s0960-8966(01)00281-4;
RA Bienfait H.M.E., Baas F., Gabreeels-Festen A.A.W.M., Koelman J.H.T.M.,
RA Langerhorst C.T., de Visser M.;
RT "Two amino-acid substitutions in the myelin protein zero gene of a case of
RT Charcot-Marie-Tooth disease associated with light-near dissociation.";
RL Neuromuscul. Disord. 12:281-285(2002).
RN [59]
RP VARIANTS CMT1B THR-140; ARG-163 AND LYS-236 DEL.
RX PubMed=12207932; DOI=10.1016/s0960-8966(02)00021-4;
RA Street V.A., Meekins G., Lipe H.P., Seltzer W.K., Carter G.T., Kraft G.H.,
RA Bird T.D.;
RT "Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel
RT mutations in the MPZ and Cx 32 genes.";
RL Neuromuscul. Disord. 12:643-650(2002).
RN [60]
RP VARIANTS CMT1B TYR-35; PHE-62; SER-63 DEL; CYS-68; GLU-93; CYS-98 AND
RP PHE-146, AND VARIANTS CMT2I VAL-75; ARG-81; MET-124; ARG-130 AND ARG-167.
RX PubMed=12477701; DOI=10.1093/brain/awg012;
RG The study group for hereditary neuropathy in Japan;
RA Hattori N., Yamamoto M., Yoshihara T., Koike H., Nakagawa M., Yoshikawa H.,
RA Ohnishi A., Hayasaka K., Onodera O., Baba M., Yasuda H., Saito T.,
RA Nakashima K., Kira J., Kaji R., Oka N., Sobue G.;
RT "Demyelinating and axonal features of Charcot-Marie-Tooth disease with
RT mutations of myelin-related proteins (PMP22, MPZ and Cx32): a
RT clinicopathological study of 205 Japanese patients.";
RL Brain 126:134-151(2003).
RN [61]
RP VARIANT CMT1B LEU-78, AND VARIANT DSS ASP-110.
RX PubMed=12497641; DOI=10.1002/humu.9101;
RA Huehne K., Benes V., Thiel C., Kraus C., Kress W., Hoeltzenbein M.,
RA Ploner C.J., Kotzian J., Reis A., Rott H.D., Rautenstrauss B.W.;
RT "Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and
RT GJB1.";
RL Hum. Mutat. 21:100-100(2003).
RN [62]
RP VARIANT CMT1B TRP-78.
RX PubMed=12707985; DOI=10.1002/mus.10344;
RA Kakar R., Ma W., Dutra A., Seltzer W.K., Grewal R.P.;
RT "Clinical and genetic analysis of CMT1B in a Nigerian family.";
RL Muscle Nerve 27:628-630(2003).
RN [63]
RP VARIANT CMT1B SER-145.
RX PubMed=12845552; DOI=10.1007/s10048-003-0153-0;
RA Leal A., Berghoff C., Berghoff M., Del Valle G., Contreras C., Montoya O.,
RA Hernandez E., Barrantes R., Schloetzer-Schrehardt U., Neundoerfer B.,
RA Reis A., Rautenstrauss B., Heuss D.;
RT "Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin
RT protein zero (MPZ, P0) gene causes different phenotypes in homozygous and
RT heterozygous carriers within one family.";
RL Neurogenetics 4:191-197(2003).
RN [64]
RP VARIANTS CMT2I HIS-60 AND MET-62.
RX PubMed=14638973; DOI=10.1212/01.wnl.0000094197.46109.75;
RA Auer-Grumbach M., Strasser-Fuchs S., Robl T., Windpassinger C., Wagner K.;
RT "Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in
RT the MPZ gene.";
RL Neurology 61:1435-1437(2003).
RN [65]
RP VARIANTS CMT1B PRO-39; PHE-44; CYS-50 DEL; HIS-98; CYS-123; ARG-130;
RP THR-140 AND SER-227.
RX PubMed=14711881; DOI=10.1093/brain/awh048;
RA Shy M.E., Jani A., Krajewski K., Grandis M., Lewis R.A., Li J., Shy R.R.,
RA Balsamo J., Lilien J., Garbern J.Y., Kamholz J.;
RT "Phenotypic clustering in MPZ mutations.";
RL Brain 127:371-384(2004).
RN [66]
RP VARIANT CMT2 LYS-56.
RX PubMed=14871447; DOI=10.1111/j.1085-9489.2004.09101.x;
RA Kochanski A., Kabzinska D., Nowakowski A., Drac H.,
RA Hausmanowa-Petrusewicz I.;
RT "An axonal form of Charcot-Marie-Tooth disease with a novel missense
RT mutation in the myelin protein zero gene.";
RL J. Peripher. Nerv. Syst. 9:1-2(2004).
RN [67]
RP VARIANTS CMT2I ASN-118 AND GLU-236.
RX PubMed=15241803; DOI=10.1002/humu.9261;
RA Choi B.-O., Lee M.S., Shin S.H., Hwang J.H., Choi K.-G., Kim W.-K.,
RA Sunwoo I.N., Kim N.K., Chung K.W.;
RT "Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-
RT Marie-Tooth neuropathy patients.";
RL Hum. Mutat. 24:185-186(2004).
RN [68]
RP VARIANT CHN2 LYS-124.
RX PubMed=15184631; DOI=10.1212/01.wnl.0000127606.93772.3a;
RA Kochanski A., Drac H., Kabzinska D., Ryniewicz B., Rowinska-Marcinska K.,
RA Nowakowski A., Hausmanowa-Petrusewicz I.;
RT "A novel MPZ gene mutation in congenital neuropathy with hypomyelination.";
RL Neurology 62:2122-2123(2004).
RN [69]
RP VARIANT CMT2J VAL-97.
RX PubMed=15326256; DOI=10.1212/01.wnl.0000134605.61307.de;
RA Seeman P., Mazanec R., Huehne K., Suslikova P., Keller O.,
RA Rautenstrauss B.;
RT "Hearing loss as the first feature of late-onset axonal CMT disease due to
RT a novel P0 mutation.";
RL Neurology 63:733-735(2004).
RN [70]
RP VARIANT CMT1B TYR-224.
RX PubMed=16488608; DOI=10.1016/j.nmd.2006.01.006;
RA Fabrizi G.M., Pellegrini M., Angiari C., Cavallaro T., Morini A.,
RA Taioli F., Cabrini I., Orrico D., Rizzuto N.;
RT "Gene dosage sensitivity of a novel mutation in the intracellular domain of
RT P0 associated with Charcot-Marie-Tooth disease type 1B.";
RL Neuromuscul. Disord. 16:183-187(2006).
RN [71]
RP CHARACTERIZATION OF VARIANTS CMT1B 51-SER--TRP-57 DEL; PRO-39; ARG-81 AND
RP MET-124, FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=18337304; DOI=10.1093/hmg/ddn083;
RA Grandis M., Vigo T., Passalacqua M., Jain M., Scazzola S., La Padula V.,
RA Brucal M., Benvenuto F., Nobbio L., Cadoni A., Mancardi G.L., Kamholz J.,
RA Shy M.E., Schenone A.;
RT "Different cellular and molecular mechanisms for early and late-onset
RT myelin protein zero mutations.";
RL Hum. Mol. Genet. 17:1877-1889(2008).
RN [72]
RP VARIANT CMT2 MET-124.
RX PubMed=15159512; DOI=10.1212/01.wnl.0000125287.98456.23;
RA Baloh R.H., Jen J.C., Kim G., Baloh R.W.;
RT "Chronic cough due to Thr124Met mutation in the peripheral myelin protein
RT zero (MPZ gene).";
RL Neurology 62:1905-1906(2004).
RN [73]
RP VARIANT CMT1B ALA-65.
RX PubMed=15036333; DOI=10.1016/j.nmd.2003.12.001;
RA Kochanski A., Drac H., Kabzinska D., Hausmanowa-Petrusewicz I.;
RT "A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-
RT Marie-Tooth type 1B disease with focally folded myelin.";
RL Neuromuscul. Disord. 14:229-232(2004).
RN [74]
RP VARIANT CMT2J MET-124, AND INVOLVEMENT IN ADIE PUPIL.
RX PubMed=16775239; DOI=10.1056/nejmcpc069009;
RA Triggs W.J., Brown R.H. Jr., Menkes D.L.;
RT "Case records of the Massachusetts General Hospital. Case 18-2006. A 57-
RT year-old woman with numbness and weakness of the feet and legs.";
RL N. Engl. J. Med. 354:2584-2592(2006).
CC -!- FUNCTION: Is an adhesion molecule necessary for normal myelination in
CC the peripheral nervous system. It mediates adhesion between adjacent
CC myelin wraps and ultimately drives myelin compaction.
CC {ECO:0000269|PubMed:10545037, ECO:0000269|PubMed:18337304}.
CC -!- SUBUNIT: Homodimer and homotetramer. {ECO:0000305|PubMed:21971831}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18337304};
CC Single-pass type I membrane protein.
CC -!- SUBCELLULAR LOCATION: [Isoform L-MPZ]: Myelin membrane
CC {ECO:0000269|PubMed:22457349}; Single-pass type I membrane protein
CC {ECO:0000269|PubMed:22457349}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P25189-1; Sequence=Displayed;
CC Name=L-MPZ;
CC IsoId=P25189-2; Sequence=VSP_045844;
CC -!- TISSUE SPECIFICITY: Found only in peripheral nervous system Schwann
CC cells.
CC -!- PTM: N-glycosylated; contains sulfate-substituted glycan.
CC {ECO:0000250}.
CC -!- DISEASE: Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]: A
CC dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder
CC of the peripheral nervous system, characterized by progressive weakness
CC and atrophy, initially of the peroneal muscles and later of the distal
CC muscles of the arms. Charcot-Marie-Tooth disease is classified in two
CC main groups on the basis of electrophysiologic properties and
CC histopathology: primary peripheral demyelinating neuropathies
CC (designated CMT1 when they are dominantly inherited) and primary
CC peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are
CC characterized by severely reduced nerve conduction velocities (less
CC than 38 m/sec), segmental demyelination and remyelination with onion
CC bulb formations on nerve biopsy, slowly progressive distal muscle
CC atrophy and weakness, absent deep tendon reflexes, and hollow feet.
CC {ECO:0000269|PubMed:10214757, ECO:0000269|PubMed:10545037,
CC ECO:0000269|PubMed:10737979, ECO:0000269|PubMed:10965800,
CC ECO:0000269|PubMed:11437164, ECO:0000269|PubMed:11438991,
CC ECO:0000269|PubMed:11445635, ECO:0000269|PubMed:11835375,
CC ECO:0000269|PubMed:12207932, ECO:0000269|PubMed:12221176,
CC ECO:0000269|PubMed:12402337, ECO:0000269|PubMed:12477701,
CC ECO:0000269|PubMed:12497641, ECO:0000269|PubMed:12707985,
CC ECO:0000269|PubMed:12845552, ECO:0000269|PubMed:14711881,
CC ECO:0000269|PubMed:15036333, ECO:0000269|PubMed:16488608,
CC ECO:0000269|PubMed:18337304, ECO:0000269|PubMed:7504284,
CC ECO:0000269|PubMed:7505151, ECO:0000269|PubMed:7527371,
CC ECO:0000269|PubMed:7530774, ECO:0000269|PubMed:7550231,
CC ECO:0000269|PubMed:7688964, ECO:0000269|PubMed:7693129,
CC ECO:0000269|PubMed:7693130, ECO:0000269|PubMed:7694726,
CC ECO:0000269|PubMed:8664899, ECO:0000269|PubMed:8797476,
CC ECO:0000269|PubMed:8816708, ECO:0000269|PubMed:8835320,
CC ECO:0000269|PubMed:8844219, ECO:0000269|PubMed:8990016,
CC ECO:0000269|PubMed:9187667, ECO:0000269|PubMed:9217235,
CC ECO:0000269|PubMed:9452091, ECO:0000269|PubMed:9452099,
CC ECO:0000269|PubMed:9633821, ECO:0000269|Ref.41}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- DISEASE: Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]: A
CC dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the
CC peripheral nervous system, characterized by progressive weakness and
CC atrophy, initially of the peroneal muscles and later of the distal
CC muscles of the arms. Charcot-Marie-Tooth disease is classified in two
CC main groups on the basis of electrophysiologic properties and
CC histopathology: primary peripheral demyelinating neuropathies
CC (designated CMT1 when they are dominantly inherited) and primary
CC peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
CC are characterized by signs of axonal degeneration in the absence of
CC obvious myelin alterations, normal or slightly reduced nerve conduction
CC velocities, and progressive distal muscle weakness and atrophy.
CC {ECO:0000269|PubMed:10764043, ECO:0000269|PubMed:11835375,
CC ECO:0000269|PubMed:12477701, ECO:0000269|PubMed:14638973,
CC ECO:0000269|PubMed:15241803, ECO:0000269|PubMed:9595994}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Charcot-Marie-Tooth disease 2J (CMT2J) [MIM:607736]: A
CC dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the
CC peripheral nervous system, characterized by progressive weakness and
CC atrophy, initially of the peroneal muscles and later of the distal
CC muscles of the arms. Charcot-Marie-Tooth disease is classified in two
CC main groups on the basis of electrophysiologic properties and
CC histopathology: primary peripheral demyelinating neuropathies
CC (designated CMT1 when they are dominantly inherited) and primary
CC peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group
CC are characterized by signs of axonal degeneration in the absence of
CC obvious myelin alterations, normal or slightly reduced nerve conduction
CC velocities, and progressive distal muscle weakness and atrophy.
CC Charcot-Marie-Tooth disease type 2J is characterized by the association
CC of axonal peripheral neuropathy with hearing loss and pupillary
CC abnormalities such as Adie pupil. {ECO:0000269|PubMed:10071056,
CC ECO:0000269|PubMed:11080237, ECO:0000269|PubMed:15326256,
CC ECO:0000269|PubMed:16775239}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Adie pupil (ADIEP) [MIM:103100]: A stationary, benign disorder
CC characterized by tonic, sluggishly reacting pupil and hypoactive or
CC absent tendon reflexes. Adie pupil is a characteristic of Charcot-
CC Marie-Tooth disease type 2J. {ECO:0000269|PubMed:16775239}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Charcot-Marie-Tooth disease, dominant, intermediate type, D
CC (CMTDID) [MIM:607791]: A form of Charcot-Marie-Tooth disease, a
CC disorder of the peripheral nervous system, characterized by progressive
CC weakness and atrophy, initially of the peroneal muscles and later of
CC the distal muscles of the arms. The dominant intermediate type D is
CC characterized by clinical and pathologic features intermediate between
CC demyelinating and axonal peripheral neuropathies, and motor median
CC nerve conduction velocities ranging from 25 to 45 m/sec.
CC {ECO:0000269|PubMed:10406984}. Note=The disease may be caused by
CC variants affecting the gene represented in this entry.
CC -!- DISEASE: Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe
CC degenerating neuropathy of the demyelinating Charcot-Marie-Tooth
CC disease category, with onset by age 2 years. Characterized by motor and
CC sensory neuropathy with very slow nerve conduction velocities,
CC increased cerebrospinal fluid protein concentrations, hypertrophic
CC nerve changes, delayed age of walking as well as areflexia. There are
CC both autosomal dominant and autosomal recessive forms of Dejerine-
CC Sottas syndrome. {ECO:0000269|PubMed:11438991,
CC ECO:0000269|PubMed:11596785, ECO:0000269|PubMed:11835375,
CC ECO:0000269|PubMed:12497641, ECO:0000269|PubMed:7506095,
CC ECO:0000269|PubMed:8630052, ECO:0000269|PubMed:8816708,
CC ECO:0000269|PubMed:9187667, ECO:0000269|PubMed:9222756,
CC ECO:0000269|PubMed:9452055, ECO:0000269|PubMed:9452091,
CC ECO:0000269|PubMed:9633821}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Roussy-Levy syndrome (ROULS) [MIM:180800]: Autosomal dominant
CC disorder that resembles Charcot-Marie-Tooth disease type 1 in that it
CC presents with foot deformity, weakness and atrophy of distal limb
CC muscles, especially the peronei, and absent tendon reflexes. The
CC phenotype differs, however, in that it includes static tremor of the
CC upper limbs and gait ataxia. {ECO:0000269|PubMed:10553995}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Neuropathy, congenital hypomyelinating, 2 (CHN2) [MIM:618184]:
CC A form of congenital hypomyelinating neuropathy, a neurologic disorder
CC characterized by early-onset hypotonia, areflexia, distal muscle
CC weakness, and very slow nerve conduction velocities (NCV) resulting
CC from improper myelination of axons. In its extreme form, it may present
CC with severe joint contractures or arthrogryposis multiplex congenita
CC and respiratory insufficiency. In less severe cases patients may
CC achieve walking. Patients lack both active myelin breakdown and well-
CC organized onion bulbs on sural nerve biopsies, have absence of
CC inflammation, and show hypomyelination of most or all fibers. CHN2
CC inheritance is autosomal dominant. {ECO:0000269|PubMed:10319895,
CC ECO:0000269|PubMed:15184631, ECO:0000269|PubMed:8816708}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- MISCELLANEOUS: [Isoform L-MPZ]: Based on a naturally occurring
CC readthrough transcript. Highly antigenic. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the myelin P0 protein family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH06491.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAP35411.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA03540.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAG36330.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=EAW52606.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db;
CC URL="https://uantwerpen.vib.be/CMTMutations";
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DR EMBL; D10537; BAA01395.1; -; mRNA.
DR EMBL; D14720; BAA03540.1; ALT_INIT; Genomic_DNA.
DR EMBL; L24893; AAA20656.1; -; Genomic_DNA.
DR EMBL; L24894; AAA20656.1; JOINED; Genomic_DNA.
DR EMBL; AK313555; BAG36330.1; ALT_INIT; mRNA.
DR EMBL; BT006765; AAP35411.1; ALT_INIT; mRNA.
DR EMBL; AL592295; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471121; EAW52606.1; ALT_INIT; Genomic_DNA.
DR EMBL; BC006491; AAH06491.1; ALT_INIT; mRNA.
DR EMBL; S66705; AAB28708.1; -; mRNA.
DR EMBL; U10018; AAA18981.1; -; Genomic_DNA.
DR EMBL; U10017; AAA18981.1; JOINED; Genomic_DNA.
DR CCDS; CCDS1229.2; -. [P25189-1]
DR PIR; JH0252; JH0252.
DR RefSeq; NP_000521.2; NM_000530.7. [P25189-1]
DR RefSeq; NP_001302420.1; NM_001315491.1.
DR PDB; 3OAI; X-ray; 2.10 A; A/B=30-150.
DR PDBsum; 3OAI; -.
DR AlphaFoldDB; P25189; -.
DR SMR; P25189; -.
DR BioGRID; 110499; 4.
DR IntAct; P25189; 3.
DR STRING; 9606.ENSP00000432943; -.
DR GlyConnect; 1526; 15 N-Linked glycans (1 site).
DR GlyGen; P25189; 1 site, 15 N-linked glycans (1 site).
DR iPTMnet; P25189; -.
DR PhosphoSitePlus; P25189; -.
DR BioMuta; MPZ; -.
DR DMDM; 127721; -.
DR jPOST; P25189; -.
DR MassIVE; P25189; -.
DR MaxQB; P25189; -.
DR PaxDb; P25189; -.
DR PeptideAtlas; P25189; -.
DR PRIDE; P25189; -.
DR ProteomicsDB; 54264; -. [P25189-1]
DR Antibodypedia; 34307; 412 antibodies from 38 providers.
DR DNASU; 4359; -.
DR Ensembl; ENST00000463290.5; ENSP00000431538.1; ENSG00000158887.19. [P25189-1]
DR Ensembl; ENST00000533357.5; ENSP00000432943.1; ENSG00000158887.19. [P25189-1]
DR GeneID; 4359; -.
DR KEGG; hsa:4359; -.
DR MANE-Select; ENST00000533357.5; ENSP00000432943.1; NM_000530.8; NP_000521.2.
DR UCSC; uc001gaf.4; human. [P25189-1]
DR CTD; 4359; -.
DR DisGeNET; 4359; -.
DR GeneCards; MPZ; -.
DR HGNC; HGNC:7225; MPZ.
DR HPA; ENSG00000158887; Low tissue specificity.
DR MalaCards; MPZ; -.
DR MIM; 103100; phenotype.
DR MIM; 118200; phenotype.
DR MIM; 145900; phenotype.
DR MIM; 159440; gene.
DR MIM; 180800; phenotype.
DR MIM; 607677; phenotype.
DR MIM; 607736; phenotype.
DR MIM; 607791; phenotype.
DR MIM; 618184; phenotype.
DR neXtProt; NX_P25189; -.
DR OpenTargets; ENSG00000158887; -.
DR Orphanet; 99942; Autosomal dominant Charcot-Marie-Tooth disease type 2I.
DR Orphanet; 99943; Autosomal dominant Charcot-Marie-Tooth disease type 2J.
DR Orphanet; 100046; Autosomal dominant intermediate Charcot-Marie-Tooth disease type D.
DR Orphanet; 324585; Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain.
DR Orphanet; 101082; Charcot-Marie-Tooth disease type 1B.
DR Orphanet; 64748; Dejerine-Sottas syndrome.
DR Orphanet; 538574; Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome.
DR Orphanet; 3115; Roussy-Levy syndrome.
DR PharmGKB; PA30930; -.
DR VEuPathDB; HostDB:ENSG00000158887; -.
DR eggNOG; ENOG502QVJ0; Eukaryota.
DR GeneTree; ENSGT01030000234556; -.
DR HOGENOM; CLU_090350_3_1_1; -.
DR InParanoid; P25189; -.
DR OMA; WVGDPHW; -.
DR OrthoDB; 1621899at2759; -.
DR PhylomeDB; P25189; -.
DR TreeFam; TF331728; -.
DR PathwayCommons; P25189; -.
DR Reactome; R-HSA-9619665; EGR2 and SOX10-mediated initiation of Schwann cell myelination.
DR SignaLink; P25189; -.
DR SIGNOR; P25189; -.
DR BioGRID-ORCS; 4359; 10 hits in 1076 CRISPR screens.
DR ChiTaRS; MPZ; human.
DR GeneWiki; Myelin_protein_zero; -.
DR GenomeRNAi; 4359; -.
DR Pharos; P25189; Tbio.
DR PRO; PR:P25189; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; P25189; protein.
DR Bgee; ENSG00000158887; Expressed in tibial nerve and 106 other tissues.
DR ExpressionAtlas; P25189; baseline and differential.
DR Genevisible; P25189; HS.
DR GO; GO:0016323; C:basolateral plasma membrane; IEA:Ensembl.
DR GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
DR GO; GO:0005764; C:lysosome; IEA:Ensembl.
DR GO; GO:0043209; C:myelin sheath; IEA:UniProtKB-SubCell.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0005791; C:rough endoplasmic reticulum; IEA:Ensembl.
DR GO; GO:0045202; C:synapse; IEA:GOC.
DR GO; GO:0005198; F:structural molecule activity; NAS:ProtInc.
DR GO; GO:0098743; P:cell aggregation; IMP:UniProtKB.
DR GO; GO:0098742; P:cell-cell adhesion via plasma-membrane adhesion molecules; IMP:UniProtKB.
DR GO; GO:0007268; P:chemical synaptic transmission; TAS:ProtInc.
DR GO; GO:0042552; P:myelination; IMP:UniProtKB.
DR GO; GO:0043066; P:negative regulation of apoptotic process; IEA:Ensembl.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR013106; Ig_V-set.
DR InterPro; IPR029869; Myelin_P0.
DR InterPro; IPR000920; Myelin_P0-rel.
DR InterPro; IPR019738; Myelin_P0_CS.
DR InterPro; IPR019566; MYP0_C.
DR PANTHER; PTHR13869; PTHR13869; 1.
DR PANTHER; PTHR13869:SF7; PTHR13869:SF7; 1.
DR Pfam; PF10570; Myelin-PO_C; 1.
DR Pfam; PF07686; V-set; 1.
DR PRINTS; PR00213; MYELINP0.
DR SMART; SM00409; IG; 1.
DR SMART; SM00406; IGv; 1.
DR SUPFAM; SSF48726; SSF48726; 1.
DR PROSITE; PS50835; IG_LIKE; 1.
DR PROSITE; PS00568; MYELIN_P0; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cell membrane;
KW Charcot-Marie-Tooth disease; Deafness; Dejerine-Sottas syndrome;
KW Direct protein sequencing; Disease variant; Disulfide bond; Glycoprotein;
KW Immunoglobulin domain; Membrane; Neurodegeneration; Neuropathy;
KW Phosphoprotein; Reference proteome; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..29
FT CHAIN 30..248
FT /note="Myelin protein P0"
FT /id="PRO_0000019300"
FT TOPO_DOM 30..153
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 154..179
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 180..248
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 30..143
FT /note="Ig-like V-type"
FT REGION 224..248
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 228..248
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 210
FT /note="Phosphoserine; by PKC"
FT /evidence="ECO:0000250|UniProtKB:P10522"
FT MOD_RES 226
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P27573"
FT MOD_RES 228
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P27573"
FT MOD_RES 233
FT /note="Phosphoserine; by PKC"
FT /evidence="ECO:0000250|UniProtKB:P10522"
FT MOD_RES 243
FT /note="Phosphoserine; by PKC"
FT /evidence="ECO:0000250|UniProtKB:P10522"
FT CARBOHYD 122
FT /note="N-linked (GlcNAc...) (complex) asparagine"
FT /evidence="ECO:0000250"
FT DISULFID 50..127
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114,
FT ECO:0000269|PubMed:21971831"
FT VAR_SEQ 248
FT /note="K -> KRLAGRAGDRGLGVESAKGPKVMVIEMELRKDEQSPELRPAVKSPSR
FT TSLKNALKNMMGLNSDK (in isoform L-MPZ)"
FT /evidence="ECO:0000305"
FT /id="VSP_045844"
FT VARIANT 30
FT /note="I -> M (in CMT1B; dbSNP:rs770546306)"
FT /evidence="ECO:0000269|PubMed:7694726"
FT /id="VAR_004500"
FT VARIANT 32
FT /note="V -> F (in CMT1B; severe)"
FT /evidence="ECO:0000269|PubMed:10923043"
FT /id="VAR_004501"
FT VARIANT 34
FT /note="T -> I (in CMT1B)"
FT /evidence="ECO:0000269|PubMed:8797476"
FT /id="VAR_004502"
FT VARIANT 35
FT /note="D -> Y (in CMT1B and CMTDID; dbSNP:rs121913596)"
FT /evidence="ECO:0000269|PubMed:10406984,
FT ECO:0000269|PubMed:12477701"
FT /id="VAR_015971"
FT VARIANT 39
FT /note="H -> P (in CMT1B; slightly reduces intercellular
FT adhesion; does not affect targeting to the cell membrane;
FT dbSNP:rs371856018)"
FT /evidence="ECO:0000269|PubMed:14711881,
FT ECO:0000269|PubMed:18337304"
FT /id="VAR_054393"
FT VARIANT 42
FT /note="Missing (in DSS)"
FT /evidence="ECO:0000269|PubMed:11596785"
FT /id="VAR_031884"
FT VARIANT 44
FT /note="S -> F (in CMT2I and CMT1B; dbSNP:rs121913598)"
FT /evidence="ECO:0000269|PubMed:14711881,
FT ECO:0000269|PubMed:9595994"
FT /id="VAR_004503"
FT VARIANT 50
FT /note="Missing (in CMT1B)"
FT /evidence="ECO:0000269|PubMed:14711881"
FT /id="VAR_054394"
FT VARIANT 51..57
FT /note="Missing (in CMT1B; affects targeting to the cell
FT membrane; reduces intercellular adhesion)"
FT /evidence="ECO:0000269|PubMed:18337304"
FT /id="VAR_054395"
FT VARIANT 51
FT /note="S -> F (in CMT1B; dbSNP:rs1553259790)"
FT /evidence="ECO:0000269|PubMed:11437164"
FT /id="VAR_029971"
FT VARIANT 54
FT /note="S -> C (in CMT1B; severe)"
FT /id="VAR_004504"
FT VARIANT 54
FT /note="S -> P (in CMT1B)"
FT /evidence="ECO:0000269|Ref.41"
FT /id="VAR_004505"
FT VARIANT 56
FT /note="E -> K (in CMT2)"
FT /evidence="ECO:0000269|PubMed:14871447"
FT /id="VAR_054396"
FT VARIANT 58
FT /note="V -> F (in CMT1B; moderate)"
FT /evidence="ECO:0000269|PubMed:9452099"
FT /id="VAR_004506"
FT VARIANT 60
FT /note="D -> H (in CMT2I; dbSNP:rs121913604)"
FT /evidence="ECO:0000269|PubMed:14638973"
FT /id="VAR_029972"
FT VARIANT 61
FT /note="D -> G (in CMT2I; dbSNP:rs786204119)"
FT /evidence="ECO:0000269|PubMed:10764043"
FT /id="VAR_031885"
FT VARIANT 62
FT /note="I -> F (in CMT1B; dbSNP:rs121913602)"
FT /evidence="ECO:0000269|PubMed:10214757,
FT ECO:0000269|PubMed:12477701"
FT /id="VAR_015972"
FT VARIANT 62
FT /note="I -> M (in CMT2I; dbSNP:rs121913605)"
FT /evidence="ECO:0000269|PubMed:14638973"
FT /id="VAR_029973"
FT VARIANT 63
FT /note="S -> C (in DSS; dbSNP:rs121913585)"
FT /evidence="ECO:0000269|PubMed:7506095"
FT /id="VAR_004508"
FT VARIANT 63
FT /note="S -> F (in CMT1B; dbSNP:rs121913585)"
FT /evidence="ECO:0000269|PubMed:11438991,
FT ECO:0000269|PubMed:8835320"
FT /id="VAR_004509"
FT VARIANT 63
FT /note="Missing (in CMT1B)"
FT /evidence="ECO:0000269|PubMed:12402337,
FT ECO:0000269|PubMed:12477701, ECO:0000269|PubMed:7693130"
FT /id="VAR_004507"
FT VARIANT 64
FT /note="Missing (in CMT1B and DSS)"
FT /evidence="ECO:0000269|PubMed:8630052"
FT /id="VAR_004510"
FT VARIANT 65
FT /note="T -> A (in CMT1B; dbSNP:rs1553259760)"
FT /evidence="ECO:0000269|PubMed:15036333"
FT /id="VAR_031886"
FT VARIANT 65
FT /note="T -> I (in CMT1B)"
FT /evidence="ECO:0000269|PubMed:12402337"
FT /id="VAR_029974"
FT VARIANT 68
FT /note="Y -> C (in CMT1B; severe/mild)"
FT /evidence="ECO:0000269|PubMed:10923043,
FT ECO:0000269|PubMed:12402337, ECO:0000269|PubMed:12477701,
FT ECO:0000269|PubMed:9452099"
FT /id="VAR_004511"
FT VARIANT 75
FT /note="D -> V (in CMT2J and CMT2I; dbSNP:rs121913597)"
FT /evidence="ECO:0000269|PubMed:11080237,
FT ECO:0000269|PubMed:12402337, ECO:0000269|PubMed:12477701"
FT /id="VAR_015973"
FT VARIANT 78
FT /note="S -> L (in CMT1B; severe; dbSNP:rs121913601)"
FT /evidence="ECO:0000269|PubMed:10965800,
FT ECO:0000269|PubMed:11437164, ECO:0000269|PubMed:11835375,
FT ECO:0000269|PubMed:12497641, ECO:0000269|PubMed:7527371,
FT ECO:0000269|PubMed:7550231, ECO:0000269|PubMed:9187667,
FT ECO:0000269|PubMed:9633821"
FT /id="VAR_004512"
FT VARIANT 78
FT /note="S -> W (in CMT1B; dbSNP:rs121913601)"
FT /evidence="ECO:0000269|PubMed:12707985"
FT /id="VAR_031887"
FT VARIANT 81
FT /note="H -> R (in CMT1B and CMT2I; severe; reduces
FT intercellular adhesion; does not affect targeting to the
FT cell membrane; dbSNP:rs121913594)"
FT /evidence="ECO:0000269|PubMed:12477701,
FT ECO:0000269|PubMed:18337304, ECO:0000269|PubMed:8990016"
FT /id="VAR_004513"
FT VARIANT 81
FT /note="H -> Y (in CMT; associated with F-113;
FT dbSNP:rs281865123)"
FT /evidence="ECO:0000269|PubMed:11801400"
FT /id="VAR_031888"
FT VARIANT 82
FT /note="Y -> C (in CMT1B and DSS; dbSNP:rs1553259707)"
FT /evidence="ECO:0000269|PubMed:11835375,
FT ECO:0000269|PubMed:12402337, ECO:0000269|PubMed:7505151,
FT ECO:0000269|PubMed:9633821"
FT /id="VAR_004514"
FT VARIANT 89
FT /note="I -> N (in CMT2I; patient carrying also Met-92 and
FT Met-162; dbSNP:rs267607244)"
FT /evidence="ECO:0000269|PubMed:11835375"
FT /id="VAR_015974"
FT VARIANT 90
FT /note="D -> E (in CMT1B; dbSNP:rs121913584)"
FT /evidence="ECO:0000269|PubMed:7693129"
FT /id="VAR_004515"
FT VARIANT 92
FT /note="V -> M (in CMT2I; patient carrying also Asn-89 and
FT Met-162; dbSNP:rs267607245)"
FT /evidence="ECO:0000269|PubMed:11835375"
FT /id="VAR_015975"
FT VARIANT 93
FT /note="G -> E (in CMT1B; dbSNP:rs1060503418)"
FT /evidence="ECO:0000269|PubMed:12477701,
FT ECO:0000269|PubMed:9217235"
FT /id="VAR_004516"
FT VARIANT 96
FT /note="K -> E (in CMT1B; dbSNP:rs121913583)"
FT /evidence="ECO:0000269|PubMed:7504284,
FT ECO:0000269|PubMed:7693129"
FT /id="VAR_004517"
FT VARIANT 97
FT /note="E -> V (in CMT2J; dbSNP:rs121913606)"
FT /evidence="ECO:0000269|PubMed:15326256"
FT /id="VAR_029975"
FT VARIANT 98
FT /note="R -> C (in CMT1B and DSS; severe;
FT dbSNP:rs121913590)"
FT /evidence="ECO:0000269|PubMed:11438991,
FT ECO:0000269|PubMed:12477701, ECO:0000269|PubMed:8797476,
FT ECO:0000269|PubMed:8816708, ECO:0000269|PubMed:9187667"
FT /id="VAR_004518"
FT VARIANT 98
FT /note="R -> H (in CMT1B; dbSNP:rs121913589)"
FT /evidence="ECO:0000269|PubMed:10737979,
FT ECO:0000269|PubMed:11437164, ECO:0000269|PubMed:12221176,
FT ECO:0000269|PubMed:14711881, ECO:0000269|PubMed:7688964,
FT ECO:0000269|PubMed:8797476"
FT /id="VAR_004519"
FT VARIANT 98
FT /note="R -> P (in CMT1B; dbSNP:rs121913589)"
FT /id="VAR_004520"
FT VARIANT 98
FT /note="R -> S (in CMT1B)"
FT /evidence="ECO:0000269|PubMed:8816708"
FT /id="VAR_004521"
FT VARIANT 99
FT /note="I -> T (in CMT1B)"
FT /id="VAR_004522"
FT VARIANT 101
FT /note="W -> C (in CMT1B)"
FT /evidence="ECO:0000269|PubMed:7550231"
FT /id="VAR_004523"
FT VARIANT 103
FT /note="G -> E (in CMT1B; dbSNP:rs121913600)"
FT /evidence="ECO:0000269|PubMed:11445635"
FT /id="VAR_015976"
FT VARIANT 109
FT /note="D -> N (in CMT1B; dbSNP:rs1060503420)"
FT /evidence="ECO:0000269|PubMed:10545037"
FT /id="VAR_031889"
FT VARIANT 110
FT /note="G -> D (in DSS)"
FT /evidence="ECO:0000269|PubMed:12497641"
FT /id="VAR_029976"
FT VARIANT 112
FT /note="I -> T (in CMT1B; severe; dbSNP:rs1553259662)"
FT /evidence="ECO:0000269|PubMed:9452099"
FT /id="VAR_004524"
FT VARIANT 113
FT /note="V -> F (in CMT; unclassified; associated with Y-81;
FT dbSNP:rs281865126)"
FT /evidence="ECO:0000269|PubMed:11801400"
FT /id="VAR_031890"
FT VARIANT 113
FT /note="V -> I (in CMT2)"
FT /evidence="ECO:0000269|PubMed:12402337"
FT /id="VAR_029977"
FT VARIANT 114
FT /note="I -> T (in DSS; associated on the same allele as
FT His-116 and Asn-128 in one patient; dbSNP:rs267607241)"
FT /evidence="ECO:0000269|PubMed:9222756"
FT /id="VAR_004525"
FT VARIANT 116
FT /note="N -> H (in DSS; associated on the same allele as
FT Thr-114 and Asn-128 in one patient; dbSNP:rs267607242)"
FT /evidence="ECO:0000269|PubMed:9222756"
FT /id="VAR_004526"
FT VARIANT 118
FT /note="D -> DFY (in DSS)"
FT /evidence="ECO:0000269|PubMed:9452055"
FT /id="VAR_004527"
FT VARIANT 118
FT /note="D -> N (in CMT2I)"
FT /evidence="ECO:0000269|PubMed:15241803"
FT /id="VAR_021609"
FT VARIANT 119
FT /note="Y -> C (in CMT2I; dbSNP:rs879254038)"
FT /evidence="ECO:0000269|PubMed:10764043"
FT /id="VAR_031891"
FT VARIANT 122
FT /note="N -> S (in CMT1B; loss of glycosylation site)"
FT /evidence="ECO:0000269|PubMed:8844219"
FT /id="VAR_004528"
FT VARIANT 123
FT /note="G -> C (in DSS and CMT1B)"
FT /evidence="ECO:0000269|PubMed:11835375,
FT ECO:0000269|PubMed:14711881"
FT /id="VAR_015977"
FT VARIANT 124..125
FT /note="Missing (in DSS)"
FT /evidence="ECO:0000269|PubMed:11438991,
FT ECO:0000269|PubMed:9452091"
FT /id="VAR_004530"
FT VARIANT 124
FT /note="T -> K (in CHN2; dbSNP:rs121913595)"
FT /evidence="ECO:0000269|PubMed:15184631"
FT /id="VAR_029978"
FT VARIANT 124
FT /note="T -> M (in CMT1B, CMT2I and CMT2J; CMTJ2 patients
FT present Adie pupil; slightly reduces intercellular
FT adhesion; does not affect targeting to the cell membrane;
FT affects glycosylation; dbSNP:rs121913595)"
FT /evidence="ECO:0000269|PubMed:10071056,
FT ECO:0000269|PubMed:10329755, ECO:0000269|PubMed:10923043,
FT ECO:0000269|PubMed:11080237, ECO:0000269|PubMed:11438991,
FT ECO:0000269|PubMed:12402337, ECO:0000269|PubMed:12477701,
FT ECO:0000269|PubMed:15159512, ECO:0000269|PubMed:16775239,
FT ECO:0000269|PubMed:18337304, ECO:0000269|PubMed:9452091"
FT /id="VAR_004529"
FT VARIANT 127
FT /note="C -> Y (in DSS)"
FT /id="VAR_004531"
FT VARIANT 128
FT /note="D -> E (in CMT1B)"
FT /id="VAR_004532"
FT VARIANT 128
FT /note="D -> N (in DSS; associated on the same allele as
FT Thr-114 and His-116 in one patient; dbSNP:rs267607243)"
FT /evidence="ECO:0000269|PubMed:9222756"
FT /id="VAR_004533"
FT VARIANT 130
FT /note="K -> R (in CMT1B, CMT2I and DSS; dbSNP:rs281865127)"
FT /evidence="ECO:0000269|PubMed:10923043,
FT ECO:0000269|PubMed:12477701, ECO:0000269|PubMed:14711881,
FT ECO:0000269|PubMed:8797476"
FT /id="VAR_004534"
FT VARIANT 131
FT /note="N -> K (in ROULS; dbSNP:rs121913599)"
FT /evidence="ECO:0000269|PubMed:10553995"
FT /id="VAR_015978"
FT VARIANT 132
FT /note="P -> L (in CMT1B; moderate)"
FT /evidence="ECO:0000269|PubMed:9452099"
FT /id="VAR_004535"
FT VARIANT 134
FT /note="D -> E (in CMT1B)"
FT /evidence="ECO:0000269|PubMed:10737979,
FT ECO:0000269|PubMed:7530774"
FT /id="VAR_004536"
FT VARIANT 134
FT /note="D -> G (in CMT1B)"
FT /evidence="ECO:0000269|PubMed:10737979"
FT /id="VAR_029979"
FT VARIANT 134
FT /note="D -> N (in CMT1B; dbSNP:rs1553259647)"
FT /evidence="ECO:0000269|PubMed:7527371"
FT /id="VAR_004537"
FT VARIANT 135
FT /note="I -> L (in CMT1B and DSS; dbSNP:rs879253858)"
FT /evidence="ECO:0000269|PubMed:8797476"
FT /id="VAR_004538"
FT VARIANT 135
FT /note="I -> T (in CMT1B; dbSNP:rs121913587)"
FT /evidence="ECO:0000269|PubMed:10737979,
FT ECO:0000269|PubMed:8664899"
FT /id="VAR_004539"
FT VARIANT 136
FT /note="V -> E (in DSS)"
FT /evidence="ECO:0000269|PubMed:11835375"
FT /id="VAR_015979"
FT VARIANT 137
FT /note="G -> S (in CMT1B; dbSNP:rs121913588)"
FT /evidence="ECO:0000269|PubMed:8664899"
FT /id="VAR_004540"
FT VARIANT 138
FT /note="K -> N (in CMT1B)"
FT /evidence="ECO:0000269|PubMed:10737979"
FT /id="VAR_029980"
FT VARIANT 139
FT /note="T -> N (in CMT1B)"
FT /evidence="ECO:0000269|PubMed:10737979"
FT /id="VAR_029981"
FT VARIANT 140
FT /note="S -> T (in CMT1B; dbSNP:rs572010627)"
FT /evidence="ECO:0000269|PubMed:12207932,
FT ECO:0000269|PubMed:14711881"
FT /id="VAR_029982"
FT VARIANT 143
FT /note="T -> M (in CMT1B; dbSNP:rs750724650)"
FT /id="VAR_004541"
FT VARIANT 145
FT /note="Y -> S (in CMT1B; dbSNP:rs121913603)"
FT /evidence="ECO:0000269|PubMed:12845552"
FT /id="VAR_029983"
FT VARIANT 146
FT /note="V -> F (in CMT1B)"
FT /evidence="ECO:0000269|PubMed:12477701"
FT /id="VAR_029984"
FT VARIANT 162
FT /note="I -> M (in CMT2I; patient carrying also Asn-89 and
FT Met-92; dbSNP:rs267607246)"
FT /evidence="ECO:0000269|PubMed:11835375"
FT /id="VAR_015980"
FT VARIANT 163
FT /note="G -> R (in CMT1B; dbSNP:rs281865128)"
FT /evidence="ECO:0000269|PubMed:12207932,
FT ECO:0000269|PubMed:12402337"
FT /id="VAR_004542"
FT VARIANT 167
FT /note="G -> A (in CMT1B and DSS; severe)"
FT /evidence="ECO:0000269|PubMed:9452099"
FT /id="VAR_004543"
FT VARIANT 167
FT /note="G -> R (in CMT2I and DSS; dbSNP:rs121913586)"
FT /evidence="ECO:0000269|PubMed:12477701,
FT ECO:0000269|PubMed:7506095"
FT /id="VAR_004544"
FT VARIANT 170
FT /note="L -> R (in CMT1B)"
FT /evidence="ECO:0000269|PubMed:12402337"
FT /id="VAR_029985"
FT VARIANT 215..248
FT /note="Missing (in CHN2)"
FT /evidence="ECO:0000269|PubMed:10319895,
FT ECO:0000269|PubMed:8816708"
FT /id="VAR_081765"
FT VARIANT 216
FT /note="T -> ER (in CMT1B; referred to as 'T216ER')"
FT /id="VAR_029986"
FT VARIANT 221
FT /note="A -> T (in DSS)"
FT /evidence="ECO:0000269|PubMed:11596785"
FT /id="VAR_031892"
FT VARIANT 224
FT /note="D -> Y (in CMT1B; also in two asymptomatic
FT individuals from the same family; dbSNP:rs267607247)"
FT /evidence="ECO:0000269|PubMed:16488608"
FT /id="VAR_054397"
FT VARIANT 227
FT /note="R -> S (in CMT1B)"
FT /evidence="ECO:0000269|PubMed:14711881"
FT /id="VAR_054398"
FT VARIANT 236
FT /note="K -> E (in CMT2I)"
FT /evidence="ECO:0000269|PubMed:15241803"
FT /id="VAR_021610"
FT VARIANT 236
FT /note="Missing (in CMT1B)"
FT /evidence="ECO:0000269|PubMed:12207932"
FT /id="VAR_029987"
FT VARIANT 244
FT /note="R -> L (in dbSNP:rs749722729)"
FT /id="VAR_004545"
FT STRAND 36..41
FT /evidence="ECO:0007829|PDB:3OAI"
FT STRAND 46..48
FT /evidence="ECO:0007829|PDB:3OAI"
FT STRAND 63..70
FT /evidence="ECO:0007829|PDB:3OAI"
FT STRAND 77..83
FT /evidence="ECO:0007829|PDB:3OAI"
FT STRAND 86..89
FT /evidence="ECO:0007829|PDB:3OAI"
FT TURN 94..98
FT /evidence="ECO:0007829|PDB:3OAI"
FT STRAND 99..101
FT /evidence="ECO:0007829|PDB:3OAI"
FT HELIX 105..107
FT /evidence="ECO:0007829|PDB:3OAI"
FT STRAND 112..114
FT /evidence="ECO:0007829|PDB:3OAI"
FT HELIX 119..121
FT /evidence="ECO:0007829|PDB:3OAI"
FT STRAND 123..131
FT /evidence="ECO:0007829|PDB:3OAI"
FT STRAND 134..148
FT /evidence="ECO:0007829|PDB:3OAI"
SQ SEQUENCE 248 AA; 27555 MW; A93F4744DACB0D5E CRC64;
MAPGAPSSSP SPILAVLLFS SLVLSPAQAI VVYTDREVHG AVGSRVTLHC SFWSSEWVSD
DISFTWRYQP EGGRDAISIF HYAKGQPYID EVGTFKERIQ WVGDPRWKDG SIVIHNLDYS
DNGTFTCDVK NPPDIVGKTS QVTLYVFEKV PTRYGVVLGA VIGGVLGVVL LLLLLFYVVR
YCWLRRQAAL QRRLSAMEKG KLHKPGKDAS KRGRQTPVLY AMLDHSRSTK AVSEKKAKGL
GESRKDKK
