APH1A - aph-1 homolog A, gamma-secretase subunit Gene

中文名称：aph-1 同系物 A，γ-分泌酶亚基

种属: Homo sapiens

同用名: APH-1; APH-1A; CGI-78; 6530402N02Rik

关于 APH1A

功能概要

该基因编码 γ 分泌酶复合物的一个组分，该复合物可切割缺口受体和 β-淀粉样蛋白前体蛋白等完整的膜蛋白。 γ 分泌酶复合物包含该基因产物，或旁系同源前咽缺陷 1 同系物 B (APH1B) ，以及早老素、尼克斯特林和早老素增强子 2 蛋白。这种七跨膜结构域蛋白的确切功能尚不清楚，但怀疑它促进了伽马分泌酶复合体中的尼卡斯特林和早老素的结合，并在其蛋白水解加工之前与伽马分泌酶复合体的底物相互作用。该基因启动子区域的多态性与患散发性阿尔茨海默病的风险增加有关。可变剪接导致多种蛋白质编码和非蛋白质编码的转录物变体。[RefSeq 提供，2011 年 8 月]

This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011]