Gene: CEP41

Alternate names for this Gene: JBTS15|TSGA14

Gene 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q32.2

Description of this Gene: centrosomal protein 41

Type of Gene: protein-coding