Gene Symbol | C1GALT1C1 |
Entrez Gene ID | 29071 |
Full Name | C1GALT1 specific chaperone 1 |
Synonyms | C1GALT2,C38H2-L1,COSMC,HSPC067,MST143,TNPS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Tn polyagglutination syndrome, somatic, 300622 (3) |