KIF1C
Chr 17ARkinesin family member 1C
Also known as: LTXS1, SATX2, SAX2, SPAX2, SPG58
KIF1C encodes a kinesin motor protein required for retrograde transport of Golgi vesicles to the endoplasmic reticulum and has microtubule plus end-directed motility. Mutations cause spastic ataxia 2, an autosomal recessive disorder affecting the central nervous system with both spasticity and ataxia features. The gene shows significant constraint against loss-of-function variants (LOEUF 0.341), suggesting intolerance to protein disruption.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KIF1C · 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