Kaitsijageenistä COSMC , suojaa ja stabiloi normaalia O-glykosylaatiota ja täten ketjun kasvua

 

Aliases for C1GALT1C1 Gene

• GeneCards Symbol: C1GALT1C1 2 
• C1GALT1 Specific Chaperone 1 2 3 5
• COSMC 2 3 4 5
• C1GALT2 2 3 5
• Core 1 Beta3-Galactosyltransferase-Specific Molecular Chaperone 3 4
• Core 1 Beta3-Gal-T-Specific Molecular Chaperone 2 3
• Core 1 Beta1,3-Galactosyltransferase 2 3 4
• C1GALT1-Specific Chaperone 1 3 4

• NCBI Gene Summary for C1GALT1C1 Gene

   

  • 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]

  GeneCards Summary for C1GALT1C1 Gene

  C1GALT1C1 (C1GALT1 Specific Chaperone 1) is a Protein Coding gene. Diseases associated with C1GALT1C1 include Tn Polyagglutination Syndrome and Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature. Among its related pathways are O-linked glycosylation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is C1GALT1C1L.

  UniProtKB/Swiss-Prot Summary for C1GALT1C1 Gene

  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). ( C1GLC_HUMAN,Q96EU7 )