CEP41 Rabbit Polyclonal Antibody

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.