Centrosomal protein of 83 kDa
The CEP83 gene encodes a protein that is recruited to centriols and involved in centriol maturation. Mutations are responsible for the autosomal recessive ciliopathy nephronophthisis 18.
Joo K et. al. (2013) CCDC41 is required for ciliary vesicle docking to the mother centriole.
Failler M et. al. (2014) Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
Update: Sept. 26, 2018