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  • 發布時間:2022-07-21 13:46 原文鏈接: 與Hedgehog信號通路相關因子介紹PTCH2

    該基因編碼修補基因家族的跨膜受體。編碼蛋白可能在hedgehog信號通路中起抑癌作用。此基因的改變與痣樣基底細胞癌綜合征、基底細胞癌、髓母細胞瘤和先天性巨大腫瘤易感性有關。已經描述了選擇性剪接的轉錄變體。[由refseq提供,2009年10月]
    This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]

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