B4GAT1 beta-1,4-glucuronyltransferase 1

Gene ID: 11041, updated on 5-Mar-2024
Gene type: protein coding
Also known as: iGAT; iGNT; B3GNT1; B3GNT6; B3GN-T1; MDDGA13; BETA3GNTI

Summary

This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 MedGen: C3809042OMIM: 615287GeneReviews: Not available	See labs

Genomic context

Location:: 11q13.2

Sequence:: Chromosome: 11; NC_000011.10 (66345374..66347629, complement)

Total number of exons:: 2

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for B4GAT1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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