GFUS
Chr 8GDP-L-fucose synthase
The GDP-fucose synthase enzyme catalyzes the NADP-dependent conversion of GDP-4-dehydro-6-deoxy-D-mannose to GDP-fucose, which is essential for fucosylation of glycoproteins including blood group antigens and cell adhesion molecules. Mutations cause leukocyte adhesion deficiency type II, characterized by defective neutrophil adhesion and recurrent bacterial infections, with autosomal recessive inheritance. The gene shows minimal constraint against loss-of-function variants (pLI near zero, LOEUF 1.13).
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
GFUS · 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