FCSK
Chr 16ARfucose kinase
Also known as: 1110046B12Rik, CDGF2, FUK
The protein catalyzes the phosphorylation of L-fucose to beta-L-fucose 1-phosphate, representing the first step in fucose utilization for glycoprotein and glycolipid synthesis. Mutations cause congenital disorder of glycosylation with defective fucosylation 2, which follows autosomal recessive inheritance. This gene shows low constraint to loss-of-function variants (LOEUF 1.132), suggesting some tolerance to protein disruption.
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
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FCSK · 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