基因名:
Ccser1
产品别名:
6230405M12Rik; C130092O11Rik; Fam190a; Ccser1; coiled-coil serine rich 1; coiled-coil serine rich 1; serine-rich coiled-coil domain-containing protein 1; coiled-coil serine-rich protein 1; family with sequence similarity 190, member A; protein FAM190A; FAM190A蛋白;
背景信息:
FAM190A is a 900 amino acid protein that exists as two alternatively spliced isoforms. The gene encoding FAM190A maps to human chromosome 4, which represents approximately 6% of the human genome and contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease. Chromosome 4 reportedly contains the largest gene deserts (regions of the genome with no protein encoding genes) and has one of the two lowest recombination frequencies of the human chromosomes. The MGC48628 gene product has been provisionally designated MGC48628 pending further characterization.