Aliases for CEP41 Gene
External Ids for CEP41 Gene
Previous HGNC Symbols for CEP41 Gene
Previous GeneCards Identifiers for CEP41 Gene
This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
GeneCards Summary for CEP41 Gene
CEP41 (Centrosomal Protein 41) is a Protein Coding gene. Diseases associated with CEP41 include Joubert Syndrome 15 and Joubert Syndrome With Ocular Anomalies. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance.
UniProtKB/Swiss-Prot for CEP41 Gene
Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating in the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium.