菜单 基因医生

该基因编码细胞凋亡蛋白ced-4家族的一个成员。ced家族成员含有caspase募集域(card),是细胞程序性死亡的关键介质。编码的蛋白质含有一个独特的N-末端类吡喃基序,可能与蛋白质-蛋白质相互作用有关。该蛋白与caspase 2强相互作用,与caspase 9弱相互作用该基因的过度表达可诱导细胞凋亡已发现该基因的多个选择性剪接转录变体编码不同的亚型,但一些变体的生物学有效性尚未确定。[由RefSeq提供,2008年7月]
This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

基因名:NLRP1
别名:NAC,MSPC,AIADK,CARD7,CIDED,NALP1,SLEV1,DEFCAP,PP1044,VAMAS1,CLR17.1,DEFCAP-L/S
基因ID:22861
Chromosome:
(GRCh37)
17 Start: 5404719 End: 5487832 Strand: 
信号通路:  
NLRP1 基因突变与药物