C1GALT1C1, Official Symbol C1GALT1C1provided by HGNC Official Full Name C1GALT1 specific chaperone 1provided by HGNC Primary source HGNC:HGNC:24338 See related Ensembl:ENSG00000171155 MIM:300611; AllianceGenome:HGNC:24338 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TNPS; AHUS8; COSMC; MST143; C1GALT2; HSPC067; C38H2-L1 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 See more Orthologs mouse all