SORCS3 - sortilin related VPS10 domain containing receptor 3 Gene

中文名称：含 sortilin 相关 VPS10 域受体 3

种属: Homo sapiens

同用名: SORCS

关于 SORCS3

功能概要

该基因编码 I 型受体跨膜蛋白，该蛋白是液泡蛋白分选 10 受体家族的成员。该家族的蛋白质由在 N 末端排序 10 结构域的液泡蛋白定义。该结构域的 N 端片段具有原蛋白转化酶加工的共有基序，而该结构域的 C 端片段以十个保守的半胱氨酸残基为特征。液泡蛋白分选 10 结构域之后是富含亮氨酸的片段、跨膜结构域和与衔接分子相互作用的短 C 端胞质结构域。该转录物在大脑中以高水平表达，候选基因研究表明该基因的遗传变异与阿尔茨海默病有关。与这一观察结果一致，细胞培养物中该基因的敲低导致淀粉样蛋白前体蛋白加工增加。[RefSeq 提供，2014 年 12 月]

This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in Cell Culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014]