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cep290

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Official Full Name
centrosomal protein 290kDa
Background
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.
Synonyms
CEP290; centrosomal protein 290kDa; centrosomal protein of 290 kDa; 3H11Ag; BBS14; cancer/testis antigen 87; CT87; FLJ13615; JBTS5; Joubert syndrome 5; KIAA0373; LCA10; Meckel syndrome; type 4; MKS4; nephrocystin 6; NPHP6; POC3; POC3 centriolar protein homolog (Chlamydomonas); rd16; SLSN6; Bardet-Biedl syndrome 14 protein; CE290_HUMAN; CTCL tumor antigen se2 2; FLJ21979; JBTS6; Meckel syndrome, type 4; Monoclonal 3H11 antigen; Nephrocystin-6; POC3 centriolar protein homolog; Prostate cancer antigen T21; SLSN6 1, 2, 5; Tumor antigen se2-2; nephrocytsin-6; OTTHUMP00000242341; CTCL tumor antigen se2-2; centrosomal protein 290; im:7145703; im:7147820

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