B3GNT7
Chr 2UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7
Also known as: beta3GnT7
The protein is a N-acetylglucosaminyltransferase that catalyzes the transfer of GlcNAc to galactose residues in keratan sulfate proteoglycans, playing a critical role in corneal keratan sulfate biosynthesis and corneal transparency. Mutations cause autosomal recessive corneal dystrophy with stromal clouding and vision impairment. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.495), indicating intolerance to complete protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
86 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 | 0 | 0 | 27 | 0 | 27 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 50 | 2 | 0 | 52 |
Likely Benign | 0 | 3 | 0 | 1 | 4 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 53 | 30 | 1 | 84 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
B3GNT7 · 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