Entrez Summary: 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].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
Rhodanese
GO Terms
protein polyglutamylation
peptidyl-glutamic acid modification
ciliary basal body-plasma membrane docking
G2/M transition of mitotic cell cycle
cell cycle G2/M phase transition
ciliary basal body
centriole
organelle localization by membrane tethering
membrane docking
regulation of G2/M transition of mitotic cell cycle