菜单 基因医生

该基因的产物是一种膜相关蛋白,在氯氰菊酯介导的细胞内吞入和细胞内蛋白质转运中发挥作用编码的蛋白质与大脑中的亨廷顿蛋白结合;这种相互作用在亨廷顿病中消失选择性剪接导致多个转录变体[由RefSeq提供,2013年7月]
The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

基因名:HIP1
别名:SHON,HIP-I,ILWEQ,SHONbeta,SHONgamma
基因ID:3092
Chromosome:
(GRCh37)
7 Start: 75162619 End: 75368290 Strand: 
信号通路:  
HIP1 基因突变与药物