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ERCC8 (gene) : ウィキペディア英語版 | ERCC8 (gene)
DNA excision repair protein ERCC-8 is a protein that in humans is encoded by the ''ERCC8'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1161 )〕 This gene encodes a WD repeat protein, which interacts with the Cockayne syndrome type B (CSB) and p44 proteins, the latter being a subunit of the RNA polymerase II transcription factor II H. Mutations in this gene have been identified in patients with the hereditary disease Cockayne syndrome (CS). The CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.〔 ==Interactions== ERCC8 (gene) has been shown to interact with XAB2.
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「ERCC8 (gene)」の詳細全文を読む
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