菜单 基因医生

这个基因编码一种几乎完全由富含亮氨酸重复序列组成的蛋白质,这是一个与蛋白质相互作用有关的结构域在RAS/ERK-MAP激酶信号级联中,该蛋白可能作为连接RAS和下游信号转导子的支架发挥作用该基因突变与努南样综合征伴发松发有关[由RefSeq提供,2010年5月]
This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]

基因名:SHOC2
别名:SOC2,SUR8,SIAA0862
基因ID:8036
Chromosome:
(GRCh37)
10 Start: 112679301 End: 112773425 Strand: 
信号通路:  
SHOC2 基因突变与药物