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  • 發布時間:2022-07-25 12:48 原文鏈接: CYLD基因突變與藥物因子介紹

    該基因編碼一種細胞質蛋白,具有三個細胞骨架相關蛋白-甘氨酸保守(cap-gly)結構域,作為一種去氫酶。該基因突變與圓筒狀瘤、多發性家族性毛發上皮瘤和brooke-spiegler綜合征有關。交替轉錄剪接變體,編碼不同的亞型,已經被描述出來。[由RefSeq提供,2008年7月]
    This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

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