B3GLCT
Chr 13ARbeta 3-glucosyltransferase
Also known as: B3GALTL, B3GTL, B3Glc-T, Gal-T, beta3Glc-T
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.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
222 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 5 | 1 | 17 | 0 | 23 |
Likely Pathogenic | 6 | 2 | 0 | 0 | 8 |
VUS | 2 | 89 | 13 | 1 | 105 |
Likely Benign | 0 | 3 | 22 | 31 | 56 |
Benign | 0 | 1 | 6 | 2 | 9 |
| Total | 13 | 96 | 58 | 34 | 201 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
B3GLCT · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools