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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| CEP290-20-RE | 20 (40 μL) | 200 μL |  |
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| CEP290-20-OR | 20 (40 μL) | 200 μL |  |
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| CEP290-20-GO | 20 (40 μL) | 200 μL |  |
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| CEP290-20-GR | 20 (40 μL) | 200 μL |  |
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| CEP290-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Jul 2008]
Gene Symbol : CEP290
Gene Name : Centrosomal protein 290
Chromosome : CHR 12: 881,422,15-880,490,12
Locus : 12q21.32
Alt. Genes : TRAP1
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