靶标:
PMP22
产品别名:
CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3; HMSNIA; HNPP; Sp110; PMP22; peripheral myelin protein 22; peripheral myelin protein 22; peripheral myelin protein 22; Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia); growth arrest-specific protein 3; peripheral myelin protein 22 kDa; 外周鞘磷脂蛋白22(PMP22); 外周髓鞘蛋白-22;
背景信息:
This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013],