GALNT17
Chr 7polypeptide N-acetylgalactosaminyltransferase 17
Also known as: GALNACT17, GALNT20, GALNTL3, GalNAc-T17, GalNAc-T19, GalNAc-T5L, WBSCR17
This gene encodes an N-acetylgalactosaminyltransferase that catalyzes the initial step in O-linked oligosaccharide biosynthesis by transferring N-acetyl-D-galactosamine to serine or threonine residues on protein receptors. The gene is highly constrained against loss-of-function variants and is located near the Williams-Beuren syndrome deletion region at 7q11.23, but specific disease associations with GALNT17 mutations have not been established. The protein may contribute to membrane trafficking processes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GALNT17 · 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