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  • 發布時間:2022-07-26 13:50 原文鏈接: ELAC2基因突變與藥物因子介紹

    由該基因編碼的蛋白質具有一個c-末端結構域,其trna 3&;8242;處理內核糖核酸酶活性,從而催化從前體trnas中去除3'拖車。該蛋白還與激活的smad家族成員2(smad2)及其核伴侶forkhead box h1(又稱fast-1)相互作用,減少表達可抑制轉化生長因子β誘導的生長停滯。這個基因的突變會增加患前列腺癌的風險。已發現該基因編碼不同亞型的多個轉錄變體。[由RefSeq提供,2009年9月]
    The protein encoded by this gene has a C-terminal domain with tRNA 3&#8242; 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]

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