KATNIP

Chr 16

katanin interacting protein

Also known as: JBTS26, KIAA0556

NCBI Gene: 23247 ENSG00000047578 UniProt: O60303

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.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016]

GeneReviews ResearchGenerating clinical summary…