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C1GALT1C1
C1GALT1-specific chaperone 1
C1GALT1C1 is 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.
| Gene Name: | C1GALT1-specific chaperone 1 |
| Synonyms: | C1GALT1C1, C38H2-L1, C1Gal-T2, C1GALT1-specific chaperone 1, C38H2-like protein 1, Core 1 beta3-Gal-T2, COSMC, MST143, TNPS, C1GALT2, HSPC067 |
| Target Sequences: | AX256063 Q96EU7 Q96EU7 |
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