KATNIP, Official Symbol KATNIPprovided by HGNC Official Full Name katanin interacting proteinprovided by HGNC Primary source HGNC:HGNC:29068 See related Ensembl:ENSG00000047578 MIM:616650; AllianceGenome:HGNC:29068 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as JBTS26; KIAA0556 Summary 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] Expression Ubiquitous expression in thyroid (RPKM 9.1), testis (RPKM 6.5) and 25 other tissues See more Orthologs mouse all