CEP290 activates ATF4 mediated transcription and is required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes.
CEP290 is ubiquitously expressed; strongly in placenta and weakly in brain.
There are two named isoforms.
Defects in CEP290 are a cause of Joubert syndrome type 5 (JBTS5), Senior-Loken syndrome type 6 (SLSN6), Leber congenital amaurosis type 10 (LCA10) and Meckel syndrome type 4 (MKS4).
Antibodies against CEP290 are present in sera from patients with cutaneous T cell lymphomas, but not in the healthy control population.
Applications:Suitable for use in Western Blot.
Other applications not tested.
Recommended Dilution:Western Blot: 1:500-1:1000Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：50ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid PBS, 0.05% sodium azide, pH 7.2.
Specificity：Recognizes endogenous levels of CEP290. Species Crossreactivity: Human, mouse, rat
Isotype：IgG
Calc Applications Abbrev：WB
Calc Crossreactivity：Hu Mo Rt
Immunogen：Synthetic peptide corresponding to amino acids 781-830 of Human CEP290.
