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c1galt1c1

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Official Full Name
C1GALT1-specific chaperone 1
Background
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.
Synonyms
C1GALT1C1; C1GALT1-specific chaperone 1; C1GALT2; COSMC; HSPC067; MGC19947; Beta 1,3 galactosyltransferase 2; Beta1,3 galactosyltransferase 2; C1Gal T2; C1GALT1 specific chaperone 1; C38H2 L1; C38H2 like protein 1; C38H2L1; Core 1 beta3 galactosyltransferase specific molecular chaperone; Core 1 UDP galactose:N acetylgalactosamine alpha R beta 1,3 galactosyltransferase 2; MST143; C1Gal-T2; core 1 beta3-Gal-T2; C38H2-like protein 1; beta 1,3-galactosyltransferase 2; core 1 beta1,3-galactosyltransferase 2; core 1 beta3-galactosyltransferase-specific molecular chaperone; C38H2-L1; core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 2; zgc:66375; wu:fc17f08; wu:fc59b02; fc59b02