Anti-CEP290 (C15-1317-445)

General description

Centrosomal protein of 290 kDa (UniProt: Q6A078; also known as Cep290; Bardet-Biedl syndrome 14 protein homolog; Nephrocystin-6) is encoded by the Cep290 (also known as Kiaa0373, Nphp6) gene (Gene ID: 216274) in murine species. Cep290 is a centrosomal protein that is expressed in multiple organs during early postnatal development, with highest levels in the hindbrain region. Cep290 has 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. Cep290 is part of the tectonic-like complex, which is required for tissue-specific ciliogenesis and may also regulate ciliary membrane composition. It is also required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells. Defects in Cep290 gene are known to cause Leber congenital amaurosis (LCA), an early-onset retinal degenerative disease. Mutations in Cep290 gene are also known to cause Joubert syndrome that is characterized by psychomotor delay, hypotonia, ataxia, oculomotor apraxia and neonatal breathing abnormalities.

Specificity

This polyclonal antibody detects centrosomal protein of 290 kDa in HEK293 cells.

Immunogen

His-tagged recombinant fragment corresponding to 80 amino acids from the C-terminal half of mouse Centrosomal protein of 290 kDa.

Application

Anti-CEP290, Cat. No. ABN1710, is a highly specific rabbit polyclonal antibody that targets Centrosomal protein of 290 kDa and has been tested in and Immunocytochemistry, Immunofluorescence, Immunohistochemistry, Immunoprecipitation, and Western Blotting,

Western Blotting Analysis: A representative lot detected CEP290 in transfected HEK293 cells (Rachel, R.A., et. al. (2012). J Clin Invest. 122(4):1233-45) and COS-1 cells (Chang, B., et. al. (2006). Hum Mol Genet. 15(11):1847-57).

Immunoprecipitation Analysis: A representative lot detected CEP290 in WT and rd16 retinal extract(Chang, B., et. al. (2006). Hum Mol Genet. 15(11):1847-57).

Immunohistochemistry Analysis: A representative lot detected CEP290 in WT mouse retina (Chang, B., et. al. (2006). Hum Mol Genet. 15(11):1847-57).

Western Blotting Analysis: 1:1,000-1:2,000 dilution from a representative lot detected CEP290 in mouse retina (Courtesy of Dr. Tiansen at NIH).

Immunofluorescence Analysis: A representative lot detected CEP290 in ciliated sensory cells (Rachel, R.A., et. al. (2012). J Clin Invest. 122(4):1233-45) and WT mouse retina (Chang, B., et. al. (2006). Hum Mol Genet. 15(11):1847-57).

Immunofluorescence Analysis: 1:500-1:2,000 dilution from a representative lot detected CEP290 in frozen mouse retina (Courtesy of Dr. Tiansen at NIH).

Immunocytochemistry Analysis: A representative lot detected CEP290 in IMCD-3 cells (Chang, B., et. al. (2006). Hum Mol Genet. 15(11):1847-57).

Quality

Evaluated by Western Blotting in HEK293 cell lysate.

Western Blotting Analysis: 1:500 dilution of this antibody detected CEP290 in 10 µg of HEK293 cell lysate.

Target description

~260 kDa observed; 289.08 kDa calculated. Uncharacterized bands may be observed in some lysate(s).

Physical form

Format: Purified

Other Notes

Concentration: Please refer to lot specific datasheet.

biological source: rabbit. Quality Level: 100. antibody form: affinity isolated antibody. antibody product type: primary antibodies. clone: polyclonal. species reactivity: rat, human, mouse. technique(s): immunocytochemistry: suitable, immunofluorescence: suitable, immunohistochemistry: suitable, immunoprecipitation (IP): suitable, western blot: suitable. NCBI accession no.: NP_666121. UniProt accession no.: Q6A078. shipped in: ambient. target post-translational modification: unmodified. Gene Information: mouse ... Cep290(216274). Storage Class Code: 10 - Combustible liquids. WGK: WGK 2.