GCNT1
Chr 9glucosaminyl (N-acetyl) transferase 1
Also known as: C2GNT, C2GNT-L, C2GNT1, C2GlcNAcT, G6NT, NACGT2, NAGCT2
This protein is a glycosyltransferase that catalyzes the formation of branched mucin-type core 2 O-glycans, which are essential for selectin ligand display and leukocyte trafficking to inflammatory sites. The gene shows low constraint to loss-of-function variants, and no established Mendelian diseases have been definitively linked to GCNT1 mutations in current medical literature. While the protein plays important roles in glycan synthesis and immune cell function, pathogenic variants causing recognizable clinical syndromes have not been well-characterized.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GCNT1 · 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