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  • 發布時間:2022-07-20 10:19 原文鏈接: DNA損傷修復信號通路相關因子MSH3

    該基因編碼的蛋白質與msh2形成異二聚體,形成mutsβ,是復制后dna錯配修復系統的一部分。mutsβ通過與失配結合并與mutlα雜二聚體形成復合物來啟動失配修復。該基因在第一個外顯子中含有一個多態的9bp串聯重復序列。在參考基因組序列中,重復出現6次,已有3-7次報道。這個基因的缺陷是子宮內膜癌易感性的一個原因。[由RefSeq提供,2011年3月]
    The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011]

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