菜单 基因医生

该基因编码的蛋白质与阿托品-1相互作用。阿托品-1含有一个多聚谷氨酸重复序列,其扩增导致齿龈和苍白球萎缩。该编码蛋白具有两个ww结构域,一个鸟苷酸激酶样结构域和多个pdz结构域。其结构与膜相关鸟苷酸激酶同源物(maguk)家族相似。[由RefSeq提供,2008年7月]
The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]

基因名:MAGI2
别名:AIP1,AIP-1,ARIP1,SSCAM,MAGI-2,NPHS15,ACVRIP1
基因ID:9863
Chromosome:
(GRCh37)
7 Start: 77646374 End: 79083121 Strand: 
信号通路: 细胞增殖  侵袭和转移 
MAGI2 基因突变与药物