XB-FEAT-5819663

katnip

This is the community wiki page for the gene katnip please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

nomenclature changes

2020/06/04 Human symbol has changed for genepage ID: 5819663 From kiaa0556 to katnip

Xenopus name has changed for genepage ID: 5819663 From kiaa0556 to katanin interacting protein

summary for human KATNIP from NCBI

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]