prostate cancer antigen T21, nephrocytsin-6, monoclonal antibody 3H11 antigen, CTCL tumor antigen se2-2, 3H11Ag, BBS14, FLJ13615, FLJ21979, JBTS5, JBTS6, KIAA0373, LCA10, MKS4, NPHP6, SLSN6, rd16, centrosomal protein 290kDa, CEP290

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.