Centrosomal protein of 290kDa (Cep290) is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. It activates ATF4-mediated transcription. It is required for the correct localisation of ciliary and phototransduction proteins in retinal photoreceptor cells and may play a role in ciliary transport processes [, , ].
CEP162 (KIAA1009/QN1) is required for ciliogenesis. It is an axoneme-recognition protein that promotes and restricts transition zone formation at the cilia base. It has also been shown to interact with CEP290 and mediate its association with microtubules [].
Cep290 and similar centrosomal proteins carry a number of coiled-coil regions, and this is the fifth along the length of the protein. It is thought that the proteins are involved in cilia biosynthesis [].
CCDC66 localizes to the centrosome and the centriolar satellites []. It interacts with CEP290 and functions in cilium formation and trafficking. It has also been shown to bind to microtubules in vitro and in vivo []. Mutations of the CCD66 gene in dogs cause progressive retinal atrophy []. Homologues are found only in metazoa.
