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CEP290, centrosomal protein 290

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CEP290, centrosomal protein 290

  • 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. [provided by RefSeq, Jul 2008]

  • Gene Synonyms (centrosomal protein of 290 kDa, Bardet-Biedl syndrome 14 protein, CTCL tumor antigen se2-2, Meckel syndrome, type 4, POC3 centriolar protein homolog, cancer/testis antigen 87, centrosomal protein 290kDa, monoclonal antibody 3H11 antigen, nephrocytsin-6, prostate cancer antigen T21, tumor antigen se2-2, 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16,)
  • NCBI Gene ID: 80184
  • Species: Homo sapiens (Human)
  • UNIPROT ID#>>Q05BJ6
    UNIPROT ID#>>O15078
  • View the NCBI Database for this Gene »

The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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