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 |
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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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