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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ERCC3

    該基因編碼一種atp依賴的dna螺旋酶,在核苷酸切除修復中發揮作用。編碼蛋白是基礎轉錄因子2(tfiih)的一個亞單位,因此也在ii類轉錄中起作用。該基因突變與著色性干皮病B、Cockayne綜合征和毛發硫營養不良有關。選擇性剪接導致多個轉錄變體。[由RefSeq提供,2014年12月]
    This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

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