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 Cell Cycle, Mitotic and Regulation of PLK1 Activity at G2/M Transition. An important paralog of this gene is TSTD1.
UniProtKB/Swiss-Prot Summary 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.