FUT7
Chr 9fucosyltransferase 7
Also known as: FucT-VII
The protein functions as a fucosyltransferase that catalyzes the final step in biosynthesis of sialyl-Lewis X, a carbohydrate structure essential for leukocyte adhesion and trafficking during immune responses. Mutations cause leukocyte adhesion deficiency type II (LAD II), an autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections, intellectual disability, and distinctive facial features typically manifesting in early infancy. This is a congenital disorder of glycosylation affecting both immune function and neurodevelopment.
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
FUT7 · 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