B3GALT6
Chr 1ARbeta-1,3-galactosyltransferase 6
Also known as: ALGAZ, EDSP2, EDSSPD2, SEMDJL1, beta3GalT6
The protein is a beta-1,3-galactosyltransferase that catalyzes the transfer of galactose to substrates in glycosaminoglycan synthesis, particularly in the linker regions of heparan sulfate and chondroitin sulfate. Biallelic mutations cause autosomal recessive connective tissue disorders including Ehlers-Danlos syndrome spondylodysplastic type 2, spondyloepimetaphyseal dysplasia with joint laxity, and Al-Gazali syndrome. These conditions primarily affect the skeletal system and connective tissues, presenting with joint hypermobility, bone dysplasia, and variable developmental features.
Primary Disease Associations & 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
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
455 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 | 11 | 81 | 0 | 97 |
Likely Pathogenic | 2 | 6 | 8 | 0 | 16 |
VUS | 10 | 173 | 35 | 7 | 225 |
Likely Benign | 0 | 0 | 3 | 99 | 102 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 15 | |||
| Total | 17 | 190 | 127 | 106 | 455 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
B3GALT6 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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