Full name: C1GALT1 specific chaperone 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: C1GALT2; C38H2-L1; COSMC; HSPC067; MST143; TNPS

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]

Expression: Ubiquitous expression in adrenal (RPKM 15.6), colon (RPKM 13.2) and 25 other tissues

Gene size: 4381bp

Exon count: 3