CEP290
Reactivity: Mouse
IF (cc), IF (p)
Host: Rabbit
Polyclonal
AbBy Fluor® 350
Application Notes
Optimal working dilution should be determined by the investigator.
Restrictions
For Research Use only
Reconstitution
Restore in distilled water.
Buffer
0.1 M Tris, 0.1 M Glycine and 2 % Sucrose, None
Handling Advice
Avoid repeated freezing and thawing.
Storage
4 °C/-20 °C
Storage Comment
Prior to reconstitution store the antibody at -20 °C. Store reconstituted antibody at 2-8 °C for one month or (in aliquots) at -20 °C for longer
Target
CEP290
(Centrosomal Protein 290kDa (CEP290))
Alternative Name
CEP290
Background
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) [MIM:610188], Senior-Loken syndrome type 6 (SLSN6) [MIM:610189], Leber congenital amaurosis type 10 (LCA10) [MIM:611755] and Meckel syndrome type 4 (MKS4) [MIM:611134]. Antibodies against CEP290 are present in sera from patients with cutaneous T cell lymphomas, but not in the healthy control population.Synonyms: CT87, Cancer/testis antigen 87, Centrosomal protein of 290 kDa, KIAA0373, NPHP6, Nephrocystin-6, Tumor antigen se2-2, se2-2