| Modification Notes |
C1GALT1 (core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1), also known as T-synthase, is a single-pass type II membrane protein that is involved in various protein modification pathways. Widely expressed and present at high amounts in heart, kidney, liver and placenta, C1GALT1 functions to generate the core of 1 beta-3-galactosyltransferase, an enzyme that transfers galactose from UDP-Gal to Gal-NAc-alpha-1-O-phenyl and is a precursor for many glycoproteins. C1GALT1 binds magnesium as a cofactor and also participates in development of kidney homeostasis, as well as angiogenesis and thrombopoiesis. Defects in the gene encoding C1GALT1 are associated with IgA nephropathy (IgAN), a condition characterized by accumulation of the IgA antibody in the glomerulus, leading to immune-mediated renal disease. Two isoforms of C1GALT1 exist due to alternative splicing events. |