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Cancer tissues showed moderate to strong cytoplasmic immunoreactivity with a granular pattern.
GENE INFORMATION
Gene name
C1GALT1C1 (HGNC Symbol)
Synonyms
C1GALT2, COSMC
Description
C1GALT1-specific chaperone 1 (HGNC Symbol)
Entrez gene summary
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]