基因名:
NPC2
产品别名:
EDDM1; HE1; NPC2; NPC intracellular cholesterol transporter 2; NPC intracellular cholesterol transporter 2; NPC intracellular cholesterol transporter 2; Niemann-Pick disease type C2 protein; epididymal protein 1; epididymis secretory sperm binding protein; human epididymis-specific protein 1; tissue-specific secretory protein; 尼曼匹克C2前体蛋白; 尼曼病蛋白C2(NPC2);
背景信息:
This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]