B3GLCT

Chr 13AR

beta 3-glucosyltransferase

Also known as: B3GALTL, B3GTL, B3Glc-T, Gal-T, beta3Glc-T

NCBI Gene: 145173 ENSG00000187676 UniProt: Q6Y288 OMIM: 610308

The protein is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats, extending a unique post-translational modification pathway in the endoplasmic reticulum. Mutations cause Peters-plus syndrome, a rare disorder involving anterior segment eye malformations, intellectual disability, and growth deficiency. The condition follows autosomal recessive inheritance.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Peters-plus syndromeMIM #261540

Clinical highlights

Gene-disease validity (ClinGen)

Peters plus syndrome · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.29

LOEUF

LOF

Mechanism· G2P

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GeneReview available — B3GLCT