B3GALNT1 Chromosome 3

Beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group)
4 variants 4 Trait

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What This Gene Does
This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]
Gene Info
Gene Group
"Beta 3-glycosyltransferases|Blood group antigens"
Locus Type
gene with protein product
Location
3q26.1
Ensembl
ENSG00000169255
Associated Conditions (1)
p phenotype
All Variants (4)
RSID Category Clinical Significance Conditions
RS104893683 Trait Affects p phenotype, p phenotype
RS200235398 Trait Affects p phenotype, p phenotype
RS28937582 Trait Affects p phenotype, p phenotype
RS751995528 Trait Affects p phenotype, p phenotype
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