Anti-CEP290 Rabbit Polyclonal Antibody
Product Information
Downloads & Supports
Target
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CEP290
Host
Storage
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Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze-thaw cycles.
Clonality
Clone Number
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Isotype
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IgG
Reactivity
Application
Application Details
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WB: 1/500-1/1000
Immunogen
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Synthetic peptide corresponding to Human CEP290.
Molecular Weight
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Calculated MW: 290kDa
Formulation
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1mg/ml in PBS with 0.02% sodium azide, 50% glycerol, pH7.2.
Form
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Liquid
Gene ID
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80184
Uniprot ID
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O15078
Background
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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.
Research Area
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Synonyms
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Centrosomal protein of 290 kDa; Cep290; Bardet-Biedl syndrome 14 protein; Cancer/testis antigen 87; CT87; Nephrocystin-6; Tumor antigen se2-2; CEP290; BBS14; KIAA0373; NPHP6