菜单 基因医生

这个基因编码一种与RAS效应蛋白相似的蛋白质该基因的缺失或表达改变与多种癌症的发病有关,提示该基因具有抑癌作用该基因的失活与cpg岛启动子区的高甲基化有关。编码蛋白与DNA修复蛋白XPA相互作用该蛋白还可以抑制细胞周期蛋白d1的积累,从而诱导细胞周期停滞。已经报道了该基因编码不同亚型的几种选择性剪接转录变体。[由RefSeq提供,2011年5月]
This gene encodes a protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor suppressor function of this gene. The inactivation of this gene was found to be correlated with the hypermethylation of its CpG-island promoter region. The encoded protein was found to interact with DNA repair protein XPA. The protein was also shown to inhibit the accumulation of cyclin D1, and thus induce cell cycle arrest. Several alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, May 2011]

基因名:RASSF1
别名:123F2,RDA32,NORE2A,RASSF1A,REH3P21
基因ID:11186
Chromosome:
(GRCh37)
3 Start: 50367217 End: 50378367 Strand: 
信号通路:  
RASSF1 基因突变与药物