GBGT1
Chr 9globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)
Also known as: A3GALNT, FS, UNQ2513
This protein is a glycosyltransferase involved in glycosphingolipid metabolism, though it has lost the ability to synthesize Forssman glycolipid antigen and its current functional role remains unclear. The gene shows very low constraint against loss-of-function variants, indicating that complete loss of protein function is likely well-tolerated in humans. No established human diseases have been definitively linked to mutations in this gene.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
120 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 | 35 | 0 | 35 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 2 | 55 | 9 | 0 | 66 |
Likely Benign | 0 | 7 | 0 | 0 | 7 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 2 | 63 | 45 | 0 | 110 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GBGT1 · 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