|core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1|
|Locus||Chr. 7 p21.3|
- Function 1
- Clinical significance 2
- See also 3
- References 4
The common core 1 O-glycan structure Gal-beta-1-3GalNAc-R is a precursor for many extended mucin-type O-glycan structures in animal cell surface and secreted glycoproteins. Core 1 is synthesized by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R by core 1 beta-3-galactosyltransferase (C1GALT1).
C1GALT1 is associated with the T-Tn antigen system.
There is some evidence that mutations in the C1GALT1 gene may be associated with kidney disease.
- Amado M, Almeida R, Schwientek T, Clausen H (December 1999). "Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions". Biochim. Biophys. Acta 1473 (1): 35–53.
- Ju T, Brewer K, D'Souza A, Cummings RD, Canfield WM (January 2002). "Cloning and expression of human core 1 beta1,3-galactosyltransferase". J. Biol. Chem. 277 (1): 178–86.
- "BGMUT Blood Group Antigen Gene Mutation Database". Retrieved 2011-07-16.
- Alexander WS, Viney EM, Zhang JG, et al. (October 2006). "Thrombocytopenia and kidney disease in mice with a mutation in the C1galt1 gene". Proc. Natl. Acad. Sci. U.S.A. 103 (44): 16442–7.