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|Tested species reactivity||Human, Mouse|
|Host / Isotype||Rabbit / IgG|
|Immunogen||A synthetic peptide derived from the internal region of human CEP290|
|Purification||Antigen affinity chromatography|
|Storage buffer||Dulbecco's PBS, pH 7.4, with 150mM NaCl, 50% glycerol|
|Contains||0.02% sodium azide|
|Tested Applications||Dilution *|
|Western Blot (WB)||1:500-1:1000|
* Suggested working dilutions are given as a guide only. It is recommended that the user titrate the product for use in their own experiment using appropriate negative and positive controls.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Bardet-Biedl syndrome 14 protein; Bardet-Biedl syndrome 14 protein homolog; BBS14; cancer/testis antigen 87; centrosomal protein 290kDa; centrosomal protein of 290 kDa; CEP290; CT87; CTCL tumor antigen se2-2; KIAA0373; Meckel syndrome, type 4; monoclonal antibody 3H11 antigen; nephrocystin-6; nephrocytsin-6; NPHP6; POC3 centriolar protein homolog; prostate cancer antigen T21; tumor antigen se2-2
3H11Ag; b2b1454Clo; b2b1752Clo; BBS14; BC004690; CEP290; CT87; JBTS5; KIAA0373; LCA10; MKS4; NPHP6; POC3; rd16; SLSN6