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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.
3H11Ag; b2b1454Clo; b2b1752Clo; Bardet-Biedl syndrome 14 protein; Bardet-Biedl syndrome 14 protein homolog; BBS14; BC004690; Cancer/testis antigen 87; centrosomal protein 290; centrosomal protein 290kDa; centrosomal protein of 290 kDa; Cep290; CT87; CTCL tumor antigen se2-2; JBTS5; Kiaa0373; LCA10; Meckel syndrome, type 4; MKS4; monoclonal antibody 3H11 antigen; nephrocystin-6; nephrocytsin-6; Nphp6; POC3; POC3 centriolar protein homolog; prostate cancer antigen T21; rd16; RGD1311640; SLSN6; tumor antigen se2-2
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