KIF1B
Chr 1ADSomatickinesin family member 1B
Also known as: CMT2, CMT2A, CMT2A1, HMSNII, KLP, NBLST1
This gene encodes a plus-end-directed microtubule motor protein that transports vesicles and organelles, including mitochondria, along microtubules. Mutations cause Charcot-Marie-Tooth disease type 2A1, a peripheral neuropathy, and increase susceptibility to neuroblastoma through autosomal dominant inheritance. The gene is extremely intolerant to loss-of-function variants (pLI ~1.0, LOEUF 0.17), indicating that complete loss of function is likely incompatible with normal development.
No known disease relationship
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KIF1B · 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