Centrosomal protein, 290-KD
The gene CEP290 encodes nephrocystin-6 a centrosomal protein. Mutations cause various autosomal recessive disorders including nephronophtisis 6, Leber congenital amaurosis 10, Joubert syndrome 5, Meckel syndrome 4, Senior-Loken syndrome 6 and Bardet-Biedl syndrome 14.
Sayer JA et. al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Valente EM et al. (2006) Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Update: Sept. 26, 2018