Centrosomal protein of 290 kDa (CEP290), ELISA Kit

For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C.

We suggest pre-experimenting with neat (undiluted) samples, 1:2 or 1:4 dilutions. Please avoid diluting your samples more than 1:10 as it would exceed the dilution limit set for this kit. If the expected concentration of the target is beyond the detection range of the kit, please contact our technical support team

Select online data sheet information is drawn from bioinformatics databases, occasionally resulting in ambiguous or non-relevant product information. It is the responsibility of the customer to review, verify, and evaluate the information to make sure it matches their requirements before purchasing the kit. Our ELISA Kit assays are dynamic research tools and sometimes they may be updated and improved. If the format of this assay is important to you then please request the current manual or contact our technical support team with a presales inquiry before placing an order. We will confirm the current details of the assay. We cannot guarantee the sample manual posted online is the most current manual.

Small volumes of CEP290 elisa kit 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.

MBS7221909 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Centrosomal protein of 290 kDa (CEP290) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing CEP290. The ELISA analytical biochemical technique of the MBS7221909 kit is based on CEP290 antibody-CEP290 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect CEP290 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, CEP290. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

Cell Biology

180,067 Da[Similar Products]

centrosomal protein 290kDa

centrosomal protein of 290 kDa; nephrocytsin-6; tumor antigen se2-2; Meckel syndrome, type 4; CTCL tumor antigen se2-2; cancer/testis antigen 87; prostate cancer antigen T21; POC3 centriolar protein homolog; Bardet-Biedl syndrome 14 protein; monoclonal antibody 3H11 antigen

Centrosomal protein of 290 kDa

BBS14; KIAA0373; NPHP6; Cep290; CT87  [Similar Products]

CE290_HUMAN

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 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]

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; protein complex; membrane; cytoplasm; cytosol; nucleus; photoreceptor connecting cilium; gamma-tubulin complex

Molecular Function: protein binding; microtubule minus-end binding

Biological Process: regulation of cAMP metabolic process; positive regulation of transcription, DNA-dependent; organelle organization and biogenesis; establishment and/or maintenance of cell polarity; pronephros development; eye photoreceptor cell development; protein transport; retina development in camera-type eye; cilium biogenesis; mitotic cell cycle; G2/M transition of mitotic cell cycle; otic vesicle formation; hindbrain development

Disease: Bardet-biedl Syndrome 14; Meckel Syndrome, Type 4; Leber Congenital Amaurosis 10; Joubert Syndrome 5; Senior-loken Syndrome 6

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