B4GALNT2 Chromosome 17
Beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)
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What This Gene Does
B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
"Beta 4-glycosyltransferases|Blood group antigens"
Locus Type
gene with protein product
Location
17q21.32
Ensembl
ENSG00000167080
Associated Conditions (2)
BLOOD GROUP
SID SYSTEM
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148441237 | Trait | Affects | BLOOD GROUP, SID SYSTEM, BLOOD GROUP |