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  • 發布時間:2022-07-21 14:27 原文鏈接: 與細胞代謝信號通路相關因子介紹SMARCA4

    該基因編碼的蛋白是Swi/SNF蛋白家族的一員,與果蠅的布拉馬蛋白相似。這個家族的成員有螺旋酶和ATP酶活性,被認為通過改變這些基因周圍的染色質結構來調節某些基因的轉錄。編碼蛋白是大型ATP依賴染色質重塑復合物snf/swi的一部分,這是染色質抑制的基因轉錄激活所必需的。此外,該蛋白能結合BRCA1,并調節致瘤蛋白CD44的表達。該基因突變導致2型橫紋肌樣腫瘤易感綜合征。已發現編碼該基因不同亞型的多種轉錄變體。
    The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene.

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