C1GALT1-Specific Chaperone 1 (C1GALT1C1) Antibody – Rabbit Polyclonal

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]

C1GALT1C1: Probable chaperone required for the generation of 1 O- glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/stability of core 1 beta-3-galactosyltransferase (C1GALT1). Defects in C1GALT1C1 are the cause of Tn syndrome (TNSYN). Tn syndrome is a rare autoimmune disease caused by somatic mutation in the C1GALT1C1 gene in which subpopulations of blood cells of all lineages carry an incompletely glycosylated membrane glycoprotein, i.e. the Tn antigen. Since leukocytes and platelets are affected as well as red cells, anemia, leukopenia and thrombocytopenia are features. Tn-polyagglutinability is sometimes associated with leukemia or is a preleukemic state. Belongs to the glycosyltransferase 31 family. Beta3- Gal-T subfamily.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: Xq24

Cellular Component: Golgi membrane; integral to membrane

Molecular Function: protein binding; polypeptide N-acetylgalactosaminyltransferase activity

Biological Process: protein amino acid O-linked glycosylation; platelet activation; cellular protein metabolic process; O-glycan processing; positive regulation of transferase activity; post-translational protein modification

Disease: Tn Polyagglutination Syndrome