菜单 基因医生

该基因编码一种半胱氨酸天冬氨酸蛋白酶（caspase）家族成员蛋白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酶原存在，在保守天冬氨酸残基上进行蛋白水解处理，产生2个大、小的亚基，二聚以形成活性酶。该基因通过其蛋白质分解和激活白细胞介素-1（一种参与炎症、感染性休克和伤口愈合等过程的细胞因子）的非活性前体的能力被鉴定该基因已被证实能诱导细胞凋亡，并可能在不同的发育阶段发挥作用对小鼠中类似基因的研究表明在亨廷顿病的发病机制中起作用选择性剪接导致转录变体编码不同的亚型[由RefSeq提供，2012年3月]
This gene encodes a protein which is 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 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]