Synonyms:BBS14, KIAA0373, NPHP6,LCA10, MKS4, Nephrocystin 6, rd16, SLSN6, Tumor antigen se2 2 Background:Studies in the Chlamydomonas model system has shown that the ciliary protein CEP290 is a critical component of these Y-link junctions. Additionally, numerous studies have demonstrated that CEP290's function is critical for IFT-in CEP290 knockdown experiments, many proteins that would normally localize to the cilium fail to do so, and cilium formation is disrupted or absent. Mutations in CEP290 are accountable for cases of nephronophthisis, Leber congenital amaurosis and Joubert syndrome. In IF analtsis of HeLa cells, the white arrows show centrosome and cilium staining.