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Immunogen sequence: NRMHHHEHHH LQAPNKEDIL KISEDERMEL SKSFRVYCII LVKPKDVSLW AAVKETWTKH CDKAEFFSSE NVKVFESINM DTNDMWLMMR KAYKYAFDKY RDQYNWFFLA RPTTFAIIE
Highest antigen sequence identity to the following orthologs: Mouse - 94%, Rat - 94%.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: beta 1,3-galactosyltransferase 2; C1Gal-T2; C1GALT1-specific chaperone 1; C38H2-L1; C38H2-like protein 1; Core 1 beta1,3-galactosyltransferase 2; core 1 beta3-Gal-T2; Core 1 beta3-galactosyltransferase-specific molecular chaperone
基因别名: C1GALT1C1; C1GALT2; C38H2-L1; COSMC; HSPC067; MST143; MSTP143; TNPS; UNQ273/PRO310
UniProt ID: (Human) Q96EU7
Entrez Gene ID: (Human) 29071