菜单 基因医生

由该基因编码的蛋白质具有一个c-末端结构域,其trna 3&;8242;处理内核糖核酸酶活性,从而催化从前体trnas中去除3'拖车。该蛋白还与激活的smad家族成员2(smad2)及其核伴侣forkhead box h1(又称fast-1)相互作用,减少表达可抑制转化生长因子β诱导的生长停滞。这个基因的突变会增加患前列腺癌的风险。已发现该基因编码不同亚型的多个转录变体。[由RefSeq提供,2009年9月]
The protein encoded by this gene has a C-terminal domain with tRNA 3′ processing endoribonuclease activity, which catalyzes the removal of the 3' trailer from precursor tRNAs. The protein also interacts with activated Smad family member 2 (Smad2) and its nuclear partner forkhead box H1 (also known as FAST-1), and reduced expression can suppress transforming growth factor-beta induced growth arrest. Mutations in this gene result in an increased risk of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

基因名:ELAC2
别名:ELC2,HPC2,COXPD17
基因ID:60528
Chromosome:
(GRCh37)
17 Start: 12894929 End: 12921381 Strand: 
信号通路:  
ELAC2 基因突变与药物