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  • 發布時間:2022-07-27 07:40 原文鏈接: GEN1基因突變與藥物因子介紹

    該基因編碼rad2/著色性干皮病g組核酸酶家族的一個成員,其成員具有n末端和內部著色性干皮病g組核酸酶結構域,然后是螺旋發夾螺旋結構域和無序c末端結構域。該基因編碼的蛋白質參與了holliday連接的解析,holliday連接是一種中間的四向結構,在同源重組和雙鏈斷裂修復過程中共價連接dna。該蛋白通過在連接處形成雙切口來分解Holliday連接,從而產生可結扎的有缺口的雙聯產物。此外,該蛋白被發現定位于中心體,在中心體完整性的調控中起著重要作用。選擇性剪接導致多個轉錄變體。[由RefSeq提供,2016年7月]
    This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-terminal domains. The protein encoded by this gene is involved in resolution of Holliday junctions, which are intermediate four-way structures that covalently link DNA during homologous recombination and double-strand break repair. The protein resolves Holliday junctions by creating dual incisions across the junction to produce nicked duplex products that can be ligated. In addition, this protein has been found to localize to centrosomes where it has been implicated in regulation of centrosome integrity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

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