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.
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Pack Size | 100ul, 1ml, 20ul |
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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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