• Call +1.858.633.0165 or Fax +1.858.633.0166 or Contact Us

anti-CEP290 antibody :: Goat CEP290 Polyclonal Antibody

Scan QR to view Datasheet
Catalog # MBS421658
Unit / Price
  0.1 mg  /  $300 +1 FREE 8GB USB
Immunofluorescence (IF)
Product Name

CEP290, Polyclonal Antibody

Full Product Name

Goat anti-CEP290 Antibody

Product Synonym Names
Goat Anti-CEP290 / NPHP6 Antibody; CEP290; centrosomal protein 290kDa; 3H11Ag, BBS14, FLJ13615, FLJ21979, JBTS5, JBTS6, KIAA0373, LCA10, MKS4, NPHP6, SLSN6, rd16; CTCL tumor antigen se2-2; monoclonal antibody 3H11 antigen; nephrocytsin-6; prostate cancer antigen T21; CEP290 antibody; centrosomal protein 290kDa antibody; 3H11Ag; BBS14; FLJ13615; FLJ21979; JBTS5; JBTS6; KIAA0373; LCA10; MKS4; NPHP6; SLSN6; rd16 antibody; CTCL tumor antigen se2-2 antibody; monoclonal antibody 3H11 antigen antibody; nephrocytsin-6 antibody; prostate cancer antigen T21 antibody
Antibody/Peptide Pairs
CEP290 peptide (MBS425126) is used for blocking the activity of CEP290 antibody (MBS421658)
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Immunogen Sequence
RNSKHLKQQQ YRAEN
OMIM
610142
Clonality
Polyclonal
Host
Goat
Species Reactivity
Tested: Human; Expected from sequence similarity: Human
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)
Immunogen
Peptide with sequence C-RNSKHLKQQQYRAEN, from the internal region of the protein sequence according to NP_079390.3.
Epitope
Internal region
Note
Despite similarity of the immunizing peptide with the mouse protein, this antibody was demonstrated to weak for mouse Cep290.
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.
Applications Tested/Suitable for anti-CEP290 antibody
Peptide ELISA (EIA), Immunocytochemistry (ICC)
Application Notes for anti-CEP290 antibody
Peptide ELISA: Antibody detection limit dilution 1: 128000.
Western Blot: Preliminary experiments gave an approx 80kDa band in Human Kidney, Testis, and HeLa lysates after 1ug/ml antibody staining. Please note that currently we cannot find an explanation in the literature for the band we observe given the calculated size of 290kDa according to NP_079390.3. The 80kDa band was successfully blocked by incubation with the immunizing peptide.
Immunocytochemistry: Formaldehyde-fixed cell lines derived from prostate cancer and from breast cancer show typical centrosomal staining. Recommended concentration, 2-3ug/ml.

Immunofluorescence (IF) of anti-CEP290 antibody
(2.5ug/ml overnight staining of cell lines OPCT-1 (A) and MDA468 (fB) with Alexa Fluor 568 (red) and nuclear counter staining with DAPI (blue). Data kindly provided by Dr S, McArdle, and obtained by Sumanjeet Malhi, John van Geest Research Centre, Nottingham, UK
anti-CEP290 antibody Immunofluorescence (IF) image
NCBI/Uniprot data below describe general gene information for CEP290. It may not necessarily be applicable to this product.
NCBI GI #
NCBI GeneID
NCBI Accession #
NCBI GenBank Nucleotide #
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
180,067 Da
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
UniProt Gene Name
CEP290  [Similar Products]
UniProt Synonym Gene Names
BBS14; KIAA0373; NPHP6; Cep290; CT87  [Similar Products]
UniProt Entry Name
CE290_HUMAN
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]
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
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.
Request a Quote

Please fill out the form below and our representative will get back to you shortly.

MBS000000
Contact Us

Please fill out the form below and our representative will get back to you shortly.

MBS000000