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.
| Pack Size | 100ul, 1ml, 20ul |
|---|---|
| Applications | ELISA, WB |
| Host Species | Rabbit |
| Ig Isotype | IgG |
| Antibody Type | Polyclonal Antibody |
| Organism Species | Human |
| Product Synonyms | CEP290 |
| Observed Mol Wt | 290kDa |
| Alternative Names | CT87; MKS4; POC3; rd16; BBS14; JBTS5; LCA10; NPHP6; SLSN6; 3H11Ag; CEP290 |
| Immunogen (Antigen) | Recombinant protein |
| Format | Liquid |
| Buffer Formulation | 50% glycerol, PBS with 0.01% thimerosal, pH7.3 |
| Reactivity | Human |
| Uniprot ID | 80184 |
| Gene ID | O15078 |
| Purification | Antigen-specific affinity chromatography followed by Protein A affinity chromatography |
| Usage | For Research Use Only. Not for diagnostics or human use. |
| Shelf Life | 12 months at time of shipping |
| Shipping | Shipped in Dry Ice at -20 Degree Celsius |
| Storage | Store at -20 Degree Celsius. It is recommended to aliquot and store to avoid repeated freeze-thaw as it affects the stability of the antibody. |
| Research Areas | Neuroscience |
| Disclaimer | The data indicated herein are as indicated and validated in our laboratory. These reagents are for research use only and not for in-vitro diagnostics or human use. |

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