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B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)

Gene ID: 8706, updated on 2-Oct-2018
Also known as: P; P1; GLOB; GLCT3; galT3; Gb4Cer; B3GALT3; beta3Gal-T3

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Blood group, globoside system
MedGen: CN165474OMIM: 615021GeneReviews: Not available
See labs
p phenotype
MedGen: C0599990OMIM: 111400GeneReviews: Not available
See labs

Genomic context

Location:
3q26.1
Sequence:
Chromosome: 3; NC_000003.12 (161083883..161105469, complement)
Total number of exons:
10

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