HOOK3
Chr 8hook microtubule tethering protein 3
Also known as: HK3
HOOK3 encodes an adapter protein that links the dynein motor complex to cellular cargos and activates dynein processivity for microtubule-based transport, while also participating in vesicle trafficking and Golgi complex organization. Mutations cause autosomal recessive progressive familial intrahepatic cholestasis with neurologic features including intellectual disability and cerebellar atrophy. This gene is highly constrained against loss-of-function variants, indicating that functional HOOK3 protein is essential for normal cellular function.
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
HOOK3 · 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