GCNT2
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1607088
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资源简介：
This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
本基因编码负责形成I型血抗原的酶。I型抗原与i型抗原分别通过线性与分支状多N-乙酰乳糖胺聚糖相区分。编码的蛋白质为I型分支酶，即β-1,6-N-乙酰葡萄糖胺基转移酶，该酶负责在胚胎发育期间将胎儿i型抗原转化为红细胞中的成年I型抗原。该基因的突变与成年i型血型表型相关联。此外，已描述了编码不同异构体的选择性剪接转录本变体。[由RefSeq提供，2008年7月]
提供机构：
Rat Genome Database
