CASP12 - caspase 12 (gene/pseudogene) Gene

中文名称：半胱天冬酶 12 (基因/假基因)

种属: Homo sapiens

同用名: CASP-12; CASP12P1

关于 CASP12

功能概要

Caspase 是半胱氨酸蛋白酶，可切割其底物分子上的 C 末端天冬氨酸残基。该基因与处理炎性细胞因子的半胱天冬酶 ICE 亚家族的成员高度相关。在啮齿动物中，该基因的同系物介导响应内质网应激的细胞凋亡。然而，在人类中，该基因包含一个多态性，表示存在或不存在过早终止密码子。大多数人类个体都有过早的终止密码子并产生截短的非功能性蛋白质。通读密码子主要发生在非洲人后裔个体中，携带者对内毒素反应低下，并且对严重败血症的易感性增加。已经注意到该基因的几种可变剪接的转录物变体。[RefSeq 提供，2011 年 2 月]

Caspases are cysteine proteases that cleave C-terminal aspartic acid residues on their substrate molecules. This gene is most highly related to members of the ICE subfamily of caspases that process inflammatory cytokines. In rodents, the homolog of this gene mediates Apoptosis in response to endoplasmic reticulum stress. However, in humans this gene contains a polymorphism for the presence or absence of a premature stop codon. The majority of human individuals have the premature stop codon and produce a truncated non-functional protein. The read-through codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an increased susceptibility to severe sepsis. Several alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Feb 2011]