C1GALT1C1 Antibody

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.

C1GALT2, C38H2-L1, COSMC, HSPC067, MST143, TNPS, 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