PSEN1

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]

阿尔茨海默病（AD）患者中，患有遗传性疾病的病例携带了前体素蛋白（PSEN1；PSEN2）或淀粉样蛋白前体蛋白（APP）的突变。这些与疾病相关的突变导致了较长形式的淀粉样β蛋白（阿尔茨海默病脑中淀粉样沉积的主要成分）的生成增加。据推测，前体素通过对其作用的γ-分泌酶（一种切割APP的酶）的影响来调节APP的处理。此外，还认为前体素参与了Notch受体的切割，从而使它们要么直接调节γ-分泌酶的活性，要么自身就是蛋白酶酶。对于该基因，已鉴定出多种不同的剪接转录变体，其中只有部分全长性质得到了确定。[由RefSeq提供，2008年8月]