XB-FEAT-5819663: Difference between revisions
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= | = katnip = | ||
This is the community wiki page for the gene '' | 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] | |||
Latest revision as of 13:35, 9 June 2020
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]