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  • 發布時間:2022-08-12 09:33 原文鏈接: GALNT12基因編碼功能及結構描述

    該基因編碼udp-galnac家族的一個成員:多肽n-乙酰半乳糖胺基轉移酶,在o-連接蛋白糖基化的初始步驟中催化n-乙酰半乳糖胺(galnac)從udp-galnac轉移到多肽受體上的絲氨酸或蘇氨酸殘基。這個基因的突變與結直腸癌易感性的增加有關。

    This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.[provided by RefSeq, Mar 2011]

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