菜单 基因医生

该基因编码半胱氨酸天冬氨酸蛋白酶（caspase）家族的一个成员。半胱天冬酶的连续激活在细胞凋亡的执行阶段起着中心作用。半胱天冬酶是由前体蛋白、大蛋白酶亚单位和小蛋白酶亚单位组成的非活性原酶。半胱天冬酶的激活需要在保守的内部天冬氨酸残基处进行蛋白水解处理，以产生一种由大小亚单位组成的异二聚体酶。这种蛋白参与Fas和各种凋亡刺激诱导的程序性细胞死亡。该蛋白的N端FADD样死亡效应域表明，它可能与FAS相互作用蛋白FADD相互作用。这种蛋白在亨廷顿病患者大脑受影响区域的不溶性部分检测到，但在正常对照组中没有检测到，这与神经退行性疾病的作用有关。许多选择性剪接转录变异体编码不同的亚型已经被描述，虽然不是所有变异体都已经确定了它们的全长序列。
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 composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined.