Anti-CEP290 antibody (ab84870)
Key features and details
- Rabbit polyclonal to CEP290
- Suitable for: ICC/IF
- Reacts with: Human
- Isotype: IgG
Overview
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Product name
Anti-CEP290 antibody
See all CEP290 primary antibodies -
Description
Rabbit polyclonal to CEP290 -
Host species
Rabbit -
Tested applications
Suitable for: ICC/IFmore details -
Species reactivity
Reacts with: Human
Predicted to work with: Horse, Rhesus monkey, Gorilla, Orangutan, Elephant -
Immunogen
Synthetic peptide corresponding to a region between residues 2429 and 2479 of human CEP290 (NP_079390.3).
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General notes
The Life Science industry has been in the grips of a reproducibility crisis for a number of years. Abcam is leading the way in addressing this with our range of recombinant monoclonal antibodies and knockout edited cell lines for gold-standard validation. Please check that this product meets your needs before purchasing.
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Properties
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Form
Liquid -
Storage instructions
Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles. -
Storage buffer
pH: 6.8
Preservative: 0.09% Sodium azide
Constituents: 0.1% BSA, Tris buffered saline -
Concentration information loading...
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Purity
Immunogen affinity purified -
Purification notes
Purified using an epitope specific to CEP290 immobilized on solid support. Antibody concentration was determined by extinction coefficient: absorbance at 280 nm of 1.4 equals 1.0 mg of IgG. -
Clonality
Polyclonal -
Isotype
IgG -
Research areas
Associated products
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Compatible Secondaries
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Isotype control
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Recombinant Protein
Applications
The Abpromise guarantee
Our Abpromise guarantee covers the use of ab84870 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Application | Abreviews | Notes |
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ICC/IF |
1/100 - 1/500. Fix with formaldehyde. Acetone fixation is not recommended.
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Notes |
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ICC/IF
1/100 - 1/500. Fix with formaldehyde. Acetone fixation is not recommended. |
Target
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Function
Activates ATF4-mediated transcription. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes. -
Tissue specificity
Ubiquitous. Expressed strongly in placenta and weakly in brain. -
Involvement in disease
Defects in CEP290 are a cause of Joubert syndrome type 5 (JBTS5) [MIM:610188]. Joubert syndrome is an autosomal recessive disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (the 'molar tooth sign' on axial magnetic resonance imaging), psychomotor delay, hypotonia, ataxia, oculomotor apraxia and neonatal breathing abnormalities. JBTS5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis.
Defects in CEP290 are a cause of Senior-Loken syndrome type 6 (SLSN6) [MIM:610189]. Senior-Loken syndrome is also known as juvenile nephronophthisis with Leber amaurosis. It is an autosomal recessive renal-retinal disorder, characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renal disease, and progressive eye disease.
Defects in CEP290 are the cause of Leber congenital amaurosis type 10 (LCA10) [MIM:611755]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.
Defects in CEP290 are the cause of Meckel syndrome type 4 (MKS4) [MIM:611134]. MKS4 is an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
Note=Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not in the healthy control population.
Defects in CEP290 are the cause of Bardet-Biedl syndrome type 14 (BBS14) [MIM:209900]. A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for disease manifestation in some cases (triallelic inheritance). -
Cellular localization
Cytoplasm > cytoskeleton > centrosome. Nucleus. Cell projection > cilium. Connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells. - Information by UniProt
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Database links
- Entrez Gene: 80184 Human
- Omim: 610142 Human
- SwissProt: O15078 Human
- Unigene: 150444 Human
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Alternative names
- 3H11AG antibody
- Bardet-Biedl syndrome 14 protein antibody
- BBS14 antibody
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Images
Protocols
Datasheets and documents
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SDS download
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Datasheet download
References (29)
ab84870 has been referenced in 29 publications.
- Chen C et al. Ciliopathy protein HYLS1 coordinates the biogenesis and signaling of primary cilia by activating the ciliary lipid kinase PIPKI?. Sci Adv 7:N/A (2021). PubMed: 34162535
- Wiegering A et al. Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone. Mol Biol Cell 32:675-689 (2021). PubMed: 33625872
- Yan H et al. TALPID3 and ANKRD26 selectively orchestrate FBF1 localization and cilia gating. Nat Commun 11:2196 (2020). PubMed: 32366837
- Aydin ÖZ et al. Acute inhibition of centriolar satellite function and positioning reveals their functions at the primary cilium. PLoS Biol 18:e3000679 (2020). PubMed: 32555591
- Sullenberger C et al. With Age Comes Maturity: Biochemical and Structural Transformation of a Human Centriole in the Making. Cells 9:N/A (2020). PubMed: 32526902