KIF4A
Chr XXLRkinesin family member 4A
This protein is an ATP-dependent motor protein that transports membranous organelles along microtubules and plays essential roles in chromosome segregation and cytokinesis during cell division. Mutations cause X-linked intellectual developmental disorder and dental abnormalities including taurodontism, microdontia, and dens invaginatus. The gene follows X-linked recessive inheritance and is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.
Limited evidence — not for standalone diagnostic reporting
Some data sources returned errors (1)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KIF4A · 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