Xiap - X-linked inhibitor of apoptosis Gene

中文名称：X 连锁细胞凋亡抑制因子

种属: Mus musculus

同用名: Aipa; Api3; IAP3; MIHA; Birc4; ILP-1; 1110015C02Rik

关于 Xiap

功能概要

由该基因编码的蛋白质是细胞凋亡抑制剂 (IAP) 蛋白质家族的成员。虽然首先发现它在阻断细胞凋亡中的作用，但这种蛋白质调节许多其他信号过程，包括活化 B 细胞 (NF-kB) 通路的核因子 kappa-轻链增强子和炎症反应。这种蛋白质通过在目标半胱天冬酶被激活后结合和抑制它们来阻断细胞凋亡。一些（但不是全部）半胱天冬酶会发生结合。这种蛋白质有几个保守区域，包括杆状病毒 IAP 重复 (BIR) 基序和环指 E3 连接酶结构域。在人类中，该基因的突变与 X 连锁淋巴组织增生综合征 2 型 (XLP-2) 的免疫缺陷有关。在 7 号染色体上发现了该基因的假基因。可变剪接导致多个转录本变体。 [RefSeq 提供，2014 年 8 月]

The protein encoded by this gene is a member of the inhibitor of Apoptosis (IAP) family of proteins. While first identified for its role in blocking Apoptosis, this protein modulates many Other signaling processes including nuclear factor kappa-light-chain-enhancer of activated B cells (NF-kB) pathways and inflammatory responses. This protein blocks Apoptosis by binding and inhibiting target caspases after they have been activated. Binding occurs to some, but not all, caspases. This protein has several conserved regions, including baculoviral IAP repeat (BIR) motifs and a RING finger E3 Ligase domain. In humans, mutations in this gene are linked to immunodeficiency in X-linked lymphoproliferative syndrome type-2 (XLP-2). A pseudogene of this gene is found on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]