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anti-CEP290 antibody :: Goat CEP290/NPHP6 Polyclonal Antibody

Scan QR to view Datasheet Catalog #    MBS421608 anti-CEP290 antibody
Unit / Price
0.1 mg  /  $225 +1 FREE 8GB USB
 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

CEP290/NPHP6, Polyclonal Antibody

 Also Known As   

Goat anti-CEP290/NPHP6 Antibody

 Product Synonym Names    Goat Anti-CEP290 Antibody; CEP290; centrosomal protein 290kDa; 3H11Ag; FLJ13615; FLJ21979; JBTS5; JBTS6; KIAA0373; LCA10; MKS4; NPHP6; SLSN6; rd16; CTCL tumor antigen se2-2; monoclonal antibody 3H11 antigen; nephrocystin 6; nephrocystin-6; nephrocytsin-6; prostate cancer antigen T2; CEP290 antibody; centrosomal protein 290kDa antibody; 3H11Ag antibody; FLJ13615 antibody; FLJ21979 antibody; JBTS5 antibody; JBTS6 antibody; KIAA0373 antibody; LCA10 antibody; MKS4 antibody; NPHP6 antibody; SLSN6 antibody; rd16 antibody; CTCL tumor antigen se2-2 antibody; monoclonal antibody 3H11 antigen antibody; nephrocystin 6 antibody; nephrocystin-6 antibody; nephrocytsin-6 antibody; prostate cancer antigen T21 antibody; CEP290 / NPHP6
 Product Gene Name   

anti-CEP290 antibody

[Similar Products]
 Product Synonym Gene Name    NPHP6 [Similar Products]
 Antibody/Peptide Pairs    CEP290 / NPHP6 peptide (MBS428360) is used for blocking the activity of CEP290/NPHP6 antibody (MBS421608)
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Immunogen Sequence    QSGAESTIPD ADQ
 OMIM    610142
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 Clonality    Polyclonal
 Host    Goat
 Species Reactivity    Expected from sequence similarity: Human
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 Purity/Purification    Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide.
 Form/Format    Supplied at 0.5 mg/ml in Tris saline, 0. 02% sodium azide, pH7.3 with 0.5% bovine serum albumin.
 Concentration    100ug specific antibody in 200ul (lot specific)
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 Immunogen    Peptide with sequence C-QSGAESTIPDADQ, from the internal region of the protein sequence according to NP_079390.3.
 Epitope    Internal region
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 Preparation and Storage    Aliquot and store at -20 degree C. Minimize freezing and thawing.
 ISO Certification    Manufactured in an ISO 9001:2015 Certified Laboratory.
 Other Notes    Small volumes of anti-CEP290 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
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 Applications Tested/Suitable for anti-CEP290 antibody   

Peptide ELISA (EIA)

 Application Notes for anti-CEP290 antibody    Peptide ELISA: Antibody detection limit dilution 1: 8000.
Western Blot: Preliminary experiments in Human Kidney, Ovary and Thymus lysates gave no specific signal but low background (at antibody concentration up to 1ug/ml).
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NCBI/Uniprot data below describe general gene information for CEP290. It may not necessarily be applicable to this product.
 NCBI GI #    109255234
 NCBI GeneID    80184
 NCBI Accession #    NP_079390.3 [Other Products]
 NCBI GenBank Nucleotide #    NM_025114.3 [Other Products]
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 UniProt Secondary Accession #    Q1PSK5; Q66GS8; Q9H2G6; Q9H6Q7; Q9H8I0 [Other Products]
 UniProt Related Accession #    O15078 [Other Products]
 Molecular Weight    180,067 Da
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 NCBI Official Full Name    centrosomal protein of 290 kDa
 NCBI Official Synonym Full Names    centrosomal protein 290
 NCBI Official Symbol    CEP290 [Similar Products]
 NCBI Official Synonym Symbols   
CT87; MKS4; POC3; rd16; BBS14; JBTS5; LCA10; NPHP6; SLSN6; 3H11Ag
[Similar Products]
 NCBI Protein Information    centrosomal protein of 290 kDa
 UniProt Protein Name    Centrosomal protein of 290 kDa
 UniProt Synonym Protein Names   
Bardet-Biedl syndrome 14 protein; Cancer/testis antigen 87; CT87; Nephrocystin-6; Tumor antigen se2-2
 Protein Family    Centrosomal protein
 UniProt Gene Name    CEP290 [Similar Products]
 UniProt Synonym Gene Names    BBS14; KIAA0373; NPHP6; Cep290; CT87 [Similar Products]
 UniProt Entry Name    CE290_HUMAN
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 NCBI Summary for CEP290    This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
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 UniProt Comments for CEP290    CEP290: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. 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. Defects in CEP290 are a cause of Joubert syndrome type 5 (JBTS5). 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). 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). 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). 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. 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). 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). 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cancer Testis Antigen (CTA)

Chromosomal Location of Human Ortholog: 12q21.32

Cellular Component: centriole; centrosome; cytoplasm; cytosol; gamma-tubulin complex; membrane; nucleus; photoreceptor connecting cilium; protein complex

Molecular Function: microtubule minus-end binding; protein binding

Biological Process: cilium biogenesis; eye photoreceptor cell development; G2/M transition of mitotic cell cycle; hindbrain development; otic vesicle formation; positive regulation of transcription, DNA-dependent; pronephros development; protein transport

Disease: Bardet-biedl Syndrome 14; Joubert Syndrome 5; Leber Congenital Amaurosis 10; Meckel Syndrome, Type 4; Senior-loken Syndrome 6
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 Research Articles on CEP290    1. Two novel variants were detected: c.2536G>T (p.G846X) in the CRB1 gene and c.4929delA (p.Lys1643fsX2) in the CEP290 gene.
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Products associated with anti-CEP290 antibodyPathways associated with anti-CEP290 antibody
 Reference Product  PubMed Publications
 TMEM67 antibody  >23 publications with CEP290 and TMEM67
 MKS1 antibody  >15 publications with CEP290 and MKS1
 RAB8A antibody  >10 publications with CEP290 and RAB8A
 PCM1 antibody  >8 publications with CEP290 and PCM1
 SDCCAG8 antibody  >2 publications with CEP290 and SDCCAG8
 ALMS1 antibody  >1 publications with CEP290 and ALMS1
 CCP110 antibody  >1 publications with CEP290 and CCP110
 Products by Pathway  Pathway Diagram
 AURKA Activation By TPX2 Pathway antibodies  AURKA Activation By TPX2 Pathway Diagram
 Anchoring Of The Basal Body To The Plasma Membrane Pathway antibodies  Anchoring Of The Basal Body To The Plasma Membrane Pathway Diagram
 Assembly Of The Primary Cilium Pathway antibodies  Assembly Of The Primary Cilium Pathway Diagram
 Cell Cycle Pathway antibodies  Cell Cycle Pathway Diagram
 Cell Cycle, Mitotic Pathway antibodies  Cell Cycle, Mitotic Pathway Diagram
 Centrosome Maturation Pathway antibodies  Centrosome Maturation Pathway Diagram
 G2/M Transition Pathway antibodies  G2/M Transition Pathway Diagram
 Loss Of Nlp From Mitotic Centrosomes Pathway antibodies  Loss Of Nlp From Mitotic Centrosomes Pathway Diagram
 Loss Of Proteins Required For Interphase Microtubule Organizationfrom The Centrosome Pathway antibodies  Loss Of Proteins Required For Interphase Microtubule Organizationfrom The Centrosome Pathway Diagram
 Mitotic G2-G2/M Phases Pathway antibodies  Mitotic G2-G2/M Phases Pathway Diagram
Diseases associated with anti-CEP290 antibodyOrgans/Tissues associated with anti-CEP290 antibody
 Disease Name  Pubmed Publications
 Nervous System Diseases Antibodies  >55 publications with CEP290 and Nervous System Diseases
 Kidney Diseases Antibodies  >35 publications with CEP290 and Kidney Diseases
 Disease Models, Animal Antibodies  >19 publications with CEP290 and Disease Models, Animal
 Leber Congenital Amaurosis 10 Antibodies  >17 publications with CEP290 and Leber Congenital Amaurosis 10
 Bardet-Biedl Syndrome Antibodies  >12 publications with CEP290 and Bardet-Biedl Syndrome
 Fibrosis Antibodies  >8 publications with CEP290 and Fibrosis
 Meckel Syndrome, Type 4 Antibodies  >3 publications with CEP290 and Meckel Syndrome, Type 4
 Nerve Degeneration Antibodies  >3 publications with CEP290 and Nerve Degeneration
 Senior-Loken Syndrome 6 Antibodies  >2 publications with CEP290 and Senior-Loken Syndrome 6
 Heart Diseases Antibodies  >2 publications with CEP290 and Heart Diseases
 Organ/Tissue Name  Pubmed Publications
 Eye Antibodies  >74 publications with CEP290 and Eye
 Kidney Antibodies  >41 publications with CEP290 and Kidney
 Brain Antibodies  >36 publications with CEP290 and Brain
 Liver Antibodies  >11 publications with CEP290 and Liver
 Bone Antibodies  >4 publications with CEP290 and Bone
 Heart Antibodies  >3 publications with CEP290 and Heart
 Embryonic Tissue Antibodies  >3 publications with CEP290 and Embryonic Tissue
 Muscle Antibodies  >2 publications with CEP290 and Muscle
 Blood Antibodies  >2 publications with CEP290 and Blood
 Ear Antibodies  >2 publications with CEP290 and Ear
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