B3GLCT beta 3-glucosyltransferase

Gene ID: 145173, updated on 5-Mar-2024
Gene type: protein coding
Also known as: B3GTL; Gal-T; B3GALTL; B3Glc-T; beta3Glc-T

Summary

The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Peters plus syndrome MedGen: C0796012OMIM: 261540GeneReviews: Peters Plus Syndrome	See labs
Seven new loci associated with age-related macular degeneration. GeneReviews: Not available

Genomic context

Location:: 13q12.3

Sequence:: Chromosome: 13; NC_000013.11 (31199975..31332276)

Total number of exons:: 19

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 B3GLCT variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

Beta 1,3-GALactosylTransferase-Like (B3GALTL) @ LOVD
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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