CEP290 Rabbit Polyclonal Antibody
Specifications
| Product Data | |
| Application | WB |
|---|---|
| Recommended Dilution | Western Blot: 1/500-1/1000. |
| Reactivity | Human, Mouse |
| Antibody Host | Rabbit |
| Clonality | Polyclonal |
| Specificity | This antibody detects endogenous levels of CEP290 protein. (region surrounding Phe812) |
| Buffer | Phosphate buffered saline (PBS), pH~7.2 State: Aff - Purified State: Liquid purified Ig fraction (> 95% pure by SDS-PAGE). Preservative: 0.05% Sodium Azide |
| Concentration | 1.0 mg/ml |
| Purification | Affinity Chromatography using epitope-specific immunogen. |
| Conjugation | Unconjugated |
| Storage | Store undiluted at 2-8°C for one month or (in aliquots) at -20°C for longer. Avoid repeated freezing and thawing. |
| Stability | Shelf life: one year from despatch. |
| Shipping | Blue Ice |
| Predicted Protein Size | ~ 290 kDa |
| Gene Name | centrosomal protein 290 |
| Database Link | |
| 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 | Centrosomal protein of 290 kDa, Nephrocystin-6, KIAA0373, NPHP6, se2-2, CT87 |
| Reference Data | |
| Protein Categories | Intracellular Proteins, Nervous system Diseases |
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