该基因编码一种属于凋亡抑制蛋白家族的蛋白质。这个家族的成员有一个保守的基序,叫做杆状病毒iap重复序列,这对他们的抗凋亡功能是必要的。该蛋白通过与肿瘤坏死因子受体相关因子traf1和traf2结合发挥作用,并抑制自由基诱导剂甲萘醌和白细胞介素1β转化酶诱导的细胞凋亡。这种蛋白质还抑制至少两种细胞死亡蛋白酶caspase家族成员caspase-3和caspase-7。该基因突变是x连锁淋巴增生综合征的病因。交替剪接导致多个转录变体。该基因的假基因存在于2号和11号染色体上。[由RefSeq提供,2011年2月]
This gene encodes a protein that belongs to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-apoptotic function. This protein functions through binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2 and inhibits apoptosis induced by menadione, a potent inducer of free radicals, and interleukin 1-beta converting enzyme. This protein also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. Mutations in this gene are the cause of X-linked lymphoproliferative syndrome. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2 and 11.[provided by RefSeq, Feb 2011]
基因名: | XIAP |
别名: | API3,ILP1,MIHA,XLP2,BIRC4,IAP-3,hIAP3,hIAP-3 |
基因ID: | 331 |
Chromosome: (GRCh37) | X Start: 122993662 End: 123047829 Strand: |
信号通路: |