菜单 基因医生

该基因编码NACHT、富含亮氨酸重复序列和含PYD(NLRP)蛋白家族的成员。它有一个N末端的吡喃结构域,然后是一个NACHT结构域、一个NACHT相关结构域(NAD)和一个C末端的富含亮氨酸重复序列(LRR)区域。NLRP蛋白通过称为炎症小体的多蛋白复合物参与促炎性caspase的激活该基因可能作为caspase-1依赖性白细胞介素1β分泌的反馈调节因子选择性剪接导致编码不同亚型的多个转录变体[由RefSeq提供,2008年7月]
This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

基因名:NLRP7
别名:HYDM,PAN7,NALP7,NOD12,PYPAF3,CLR19.4
基因ID:199713
Chromosome:
(GRCh37)
19 Start: 55434857 End: 55477611 Strand: 
信号通路:  
NLRP7 基因突变与药物