This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer.,CEP290,3H11Ag,BBS14,CT87,JBTS5,LCA10,MKS4,NPHP6,POC3,SLSN6,rd16,Epigenetics & Nuclear Signaling,Cell Biology & Developmental Biology,Cell Cycle,Centrosome,Neuroscience,CEP290