KATNIP
Chr 16ARkatanin interacting protein
Also known as: JBTS26, KIAA0556
This gene encodes a ciliary protein that localizes to the ciliary axoneme and tip, and may influence microtubule stability through interaction with the katanin complex. Mutations cause Joubert syndrome 26, an autosomal recessive ciliopathy characterized by distinctive mid-hindbrain and cerebellar malformations often accompanied by broader ciliopathy symptoms. Patient-derived fibroblasts show reduced ciliogenesis with abnormally long cilia, consistent with the protein's role in ciliary function.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KATNIP · 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