Western Blot (WB)
(Western blot analysis of extracts from K562 cells, using CEP290 antibody. )
Rabbit anti-Human CEP290 Polyclonal Antibody | anti-CEP290 antibody
CEP290 Antibody
Western Blot (WB)
(Western blot analysis of extracts from K562 cells, using CEP290 antibody. )
Western Blot (WB)
(Western blot analysis of extracts from K562 cells, using CEP290 antibody. )
NCBI and Uniprot Product Information
NCBI Description
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 Description
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; nucleus; cytosol; photoreceptor connecting cilium; gamma-tubulin complex
Molecular Function: protein binding; microtubule minus-end binding
Biological Process: regulation of cAMP metabolic process; organelle organization and biogenesis; positive regulation of transcription, DNA-dependent; establishment and/or maintenance of cell polarity; pronephros development; protein transport; eye photoreceptor cell development; retina development in camera-type eye; cilium biogenesis; mitotic cell cycle; otic vesicle formation; G2/M transition of mitotic cell cycle; hindbrain development
Disease: Bardet-biedl Syndrome 14; Leber Congenital Amaurosis 10; Meckel Syndrome, Type 4; Joubert Syndrome 5; Senior-loken Syndrome 6
Research Articles on CEP290
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Product Notes
The CEP290 cep290 (Catalog #AAA7131265) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The CEP290 Antibody reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's CEP290 can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB). WB: 1:500-1:3000. Researchers should empirically determine the suitability of the CEP290 cep290 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "CEP290, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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