菜单 基因医生

该基因编码udp-galnac家族的一个成员:多肽n-乙酰半乳糖胺基转移酶,在o-连接蛋白糖基化的初始步骤中催化n-乙酰半乳糖胺(galnac)从udp-galnac转移到多肽受体上的丝氨酸或苏氨酸残基。这个基因的突变与结直肠癌易感性的增加有关。
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]

基因名:GALNT12
别名:CRCS1,GalNAc-T12
基因ID:79695
Chromosome:
(GRCh37)
9 Start: 101569981 End: 101612363 Strand: 
信号通路: 遗传相关 
GALNT12 基因突变与药物