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CEP290 cdna clone

Scan QR to view Datasheet Catalog #    MBS1273363 CEP290 cdna clone
Unit / Price
0.01 mg Plasmid + 0.2 mL Glycerol-Stock  /  $165 +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, cDNA Clone

★Popular Item★
 Also Known As   

CEP290 cDNA Clone

 Product Gene Name   

CEP290 cdna clone

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Molecular Biology Protocol    Molecular Biology Protocol
 Frequently Asked Questions    Frequently Asked Questions
 Sequence    atggccattt tcaagattgc agctctccaa aaagttgtag ataatagtgt ttctttgtct gaactagaac tggctaataa acagtacaat gaactgactg ctaagtacag ggacatcttg caaaaagata atatgcttgt tcaaagaaca agtaacttgg aacacctgga gtgtgaaaac atctccttaa aagaacaagt ggagtctata aataaagaac tggagattac caaggaaaaa cttcacacta ttgaacaagc ctgggaacag gaaactaaat taggtaatga atctagcatg gataaggcaa agaaatcaat aaccaacagt gacattgttt ccatttcaaa aaaaataact atgctggaaa tgaaggaatt aaatgaaagg cagcgggctg aacattgtca aaaaatgtat gaacacttac ggacttcgtt aaagcaaatg gaggaacgta attttgaatt ggaaaccaaa tttgctgagg tttga
 OMIM    610142
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 Vector    pENTR223.1
 Clone Sequence Report    Provided with product shipment
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 ISO Certification    Manufactured in an ISO 9001:2008 Certified Laboratory.
 Other Notes    Small volumes of CEP290 cdna clone 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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NCBI/Uniprot data below describe general gene information for CEP290. It may not necessarily be applicable to this product.
 NCBI GI #    14250412
 NCBI GeneID    80184
 NCBI Accession #    BC008641 [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    Homo sapiens centrosomal protein 290kDa, mRNA
 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: centrosome; cytoplasm; cytosol; gamma-tubulin complex; membrane; nucleus; photoreceptor connecting cilium; protein complex

Molecular Function: identical protein binding; 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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Pathways associated with CEP290 cdna cloneDiseases associated with CEP290 cdna clone
 Products by Pathway  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 Organization From The Centrosome Pathway antibodies  Loss Of Proteins Required For Interphase Microtubule Organization From The Centrosome Pathway Diagram
 Mitotic G2-G2/M Phases Pathway antibodies  Mitotic G2-G2/M Phases Pathway Diagram
 Recruitment Of Mitotic Centrosome Proteins And Complexes Pathway antibodies  Recruitment Of Mitotic Centrosome Proteins And Complexes Pathway Diagram
 Disease Name  Pubmed Publications
 Nervous System Diseases Antibodies  >43 publications with CEP290 and Nervous System Diseases
 Congenital Abnormalities Antibodies  >35 publications with CEP290 and Congenital Abnormalities
 Retinal Degeneration Antibodies  >34 publications with CEP290 and Retinal Degeneration
 Kidney Diseases Antibodies  >23 publications with CEP290 and Kidney Diseases
 Leber Congenital Amaurosis 10 Antibodies  >12 publications with CEP290 and Leber Congenital Amaurosis 10
 Bardet-Biedl Syndrome Antibodies  >10 publications with CEP290 and Bardet-Biedl Syndrome
 Fibrosis Antibodies  >7 publications with CEP290 and Fibrosis
 Liver Diseases Antibodies  >5 publications with CEP290 and Liver Diseases
 Nerve Degeneration Antibodies  >3 publications with CEP290 and Nerve Degeneration
 Neoplasms Antibodies  >3 publications with CEP290 and Neoplasms
Organs/Tissues associated with CEP290 cdna clone
 Organ/Tissue Name  Pubmed Publications
 Eye Antibodies  >43 publications with CEP290 and Eye
 Kidney Antibodies  >28 publications with CEP290 and Kidney
 Brain Antibodies  >23 publications with CEP290 and Brain
 Liver Antibodies  >9 publications with CEP290 and Liver
 Bone Antibodies  >3 publications with CEP290 and Bone
 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
 Connective Tissue Antibodies  >1 publications with CEP290 and Connective Tissue
 Vascular Antibodies  >1 publications with CEP290 and Vascular
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