基因名：
C1GALT1C1
产品别名：
C1GALT2； C38H2-L1； COSMC； HSPC067； MST143； TNPS； C1GALT1C1； C1GALT1 specific chaperone 1； C1GALT1 specific chaperone 1； C1GALT1-specific chaperone 1； C38H2-like protein 1； beta 1,3-galactosyltransferase 2； core 1 beta1,3-galactosyltransferase 2； core 1 beta3-Gal-T2； core 1 beta3-galactosyltransferase-specific molecular chaperone； 半乳糖基转移酶2；
背景信息：
This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009]
