Bace1 - beta-site APP cleaving enzyme 1 Gene

中文名称：β 位点 APP 裂解酶 1

种属: Mus musculus

同用名: ASP2; Bace

关于 Bace1

功能概要

该基因编码天冬氨酸蛋白酶肽酶 A1 家族的一个成员。可变剪接导致多个转录本变体，其中至少一个编码前原蛋白，该前原蛋白经过蛋白水解处理以产生成熟蛋白酶。这种跨膜蛋白酶催化淀粉样蛋白前体蛋白形成淀粉样蛋白 β 肽的第一步。淀粉样蛋白 β 肽是淀粉样蛋白 β 斑块的主要成分，它在人类阿尔茨海默病患者的大脑中积累。该基因的纯合基因敲除小鼠表现出广泛的神经系统缺陷、生长迟缓、代谢异常和新生儿致死率增加。 [RefSeq 提供，2015 年 11 月]

This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta Peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer's disease patients. Homozygous knockout mice for this gene exhibit a wide range of nervous system defects, growth retardation, metabolic abnormalities, and increased neonatal lethality. [provided by RefSeq, Nov 2015]