C1GALT1
| core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 | |
|---|---|
| Identifiers | |
| Symbol | C1GALT1 |
| Entrez | 56913 |
| HUGO | 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]
Function
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]
Clinical significance
There is some evidence that mutations in the C1GALT1 gene may be associated with kidney disease.[4]
See also
References
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