core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 | |||||||
---|---|---|---|---|---|---|---|
Identifiers | |||||||
Symbol | C1GALT1 | ||||||
NCBI gene | 56913 | ||||||
HGNC | 24337 | ||||||
OMIM | 610555 | ||||||
RefSeq | NM_020156 | ||||||
UniProt | Q9NS00 | ||||||
Other data | |||||||
EC number | 2.4.1.122 | ||||||
Locus | Chr. 7 p21.3 | ||||||
|
Core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1, also known as C1GALT1, is an enzyme which in humans is encoded by the C1GALT1 gene. [1] [2]
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). [2]
C1GALT1 is associated with the T-Tn antigen system. [3]
There is some evidence that mutations in the C1GALT1 gene may be associated with kidney disease. [4]
This article incorporates text from the United States National Library of Medicine, which is in the public domain.