菜单 基因医生

这个基因编码半胱氨酸天冬氨酸蛋白酶(caspase)家族的一个成员。caspases的顺序激活在细胞凋亡的执行阶段起着重要作用。半胱天冬酶作为非活性的酶原存在,在保守的天冬氨酸残基上进行蛋白水解处理,产生两个大的和小的亚基,二聚以形成活性酶。该蛋白可通过凋亡体、细胞色素c蛋白复合物和凋亡肽酶激活因子1进行自蛋白分解和激活;这一步骤被认为是caspase激活级联反应中最早的步骤之一。这种蛋白被认为在细胞凋亡中起中心作用,并且是一种肿瘤抑制因子。选择性剪接导致多个转录变体。[由RefSeq提供,2013年5月]
This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein can undergo autoproteolytic processing and activation by the apoptosome, a protein complex of cytochrome c and the apoptotic peptidase activating factor 1; this step is thought to be one of the earliest in the caspase activation cascade. This protein is thought to play a central role in apoptosis and to be a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

基因名:CASP9
别名:MCH6,APAF3,APAF-3,PPP1R56,ICE-LAP6
基因ID:842
Chromosome:
(GRCh37)
1 Start: 15817896 End: 15851407 Strand: 
信号通路:  
CASP9 基因突变与药物