CEP41, TSGA14, Centrosomal protein of 41 kDa, Cep41, Testis-specific gene A14 protein
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],similarity:Contains 1 rhodanese domain.,tissue specificity:Isoform 1 and isoform 4 are expressed in testis and fetal tissues.,
