Aliases for KIAA0556 Gene
External Ids for KIAA0556 Gene
Previous GeneCards Identifiers for KIAA0556 Gene
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]
GeneCards Summary for KIAA0556 Gene
KIAA0556 (KIAA0556) is a Protein Coding gene. Diseases associated with KIAA0556 include Joubert Syndrome 1 and Spinocerebellar Ataxia 29, Congenital Nonprogressive.
UniProtKB/Swiss-Prot for KIAA0556 Gene
May influence the stability of microtubules (MT), possibly through interaction with the MT-severing katanin complex.