CEP41

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]

Centrosomal Protein 41

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.

Ciliary basal body-plasma membrane docking Source: Reactome
Cilium assembly Source: UniProtKB
G2/M transition of mitotic cell cycle Source: Reactome
Protein polyglutamylation Source: UniProtKB
Protein transport Source: UniProtKB-KW
Regulation of G2/M transition of mitotic cell cycle Source: Reactome

Centrosome; Cilium basal body; Cilium. Localizes mainly to the cilium basal body and in primary cilia.

Joubert syndrome 15 (JBTS15): An autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis and polydactyly.
Genetic variations in CEP41 may be associated with susceptibility to autism (PubMed:21438139).