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Centrosomal Protein 290kDa (CEP290) ELISA Kits

CEP290 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. Additionally we are shipping CEP290 Antibodies (49) and and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
CEP290 314787  
CEP290 216274 Q6A078
CEP290 80184 O15078
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Top CEP290 ELISA Kits at antibodies-online.com

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Catalog No. Reactivity Sensitivity Range Quantity Supplier Delivery Price Details
Mouse
96 Tests Log in to see 11 to 13 Days
$785.71
Details

More ELISA Kits for CEP290 Interaction Partners

Mouse (Murine) Centrosomal Protein 290kDa (CEP290) interaction partners

  1. Cep290(ko/ko (show KRT8 ELISA Kits)) mice exhibit early vision loss and die from hydrocephalus.

  2. The natural history of early loss of photoreceptor function with retained cone cell nuclei is common to both CEP290-Leber congenital amaurosis patients and the rd16;Nrl (show NRL ELISA Kits)-/- murine model.

  3. results provide a link between CEP290 and DNA replication stress and suggest CDK (show CDK4 ELISA Kits) inhibition as a potential treatment strategy for a wide range of ciliopathy syndromes.

  4. The recognition of the cryptic exon introduced by the c.2991+1655A>G mutation in CEP290 indeed is species-dependent, and seems to correlate to the evolutionary distance to humans.

  5. The novel centriolar satellite protein SSX2IP (show SSX2IP ELISA Kits) targets Cep290 to the ciliary transition zone.

  6. Data indicate that genetic interactions between BBSome components and CEP290 could underlie the variable expression and overlapping phenotypes of ciliopathies caused by CEP290 mutations.

  7. Combinations of Cep290rd16 & Mkksko alleles improved ciliogenesis & sensory functions vs either mutant alone. Altered association of CEP290 & MKKS (show MKKS ELISA Kits) affects multiprotein complex integrity at the cilia transition zone & basal body.

  8. Rkip (show PEBP1 ELISA Kits) prevents cilia formation and is associated with Cep290-mediated photoreceptor degeneration.

  9. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1 (show IQCB1 ELISA Kits)) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.

  10. a CEP290/NPHP6 mutation perturbs its interaction with RPGR (show RPGR ELISA Kits) and results in early-onset retinal degeneration

Zebrafish Centrosomal Protein 290kDa (CEP290) interaction partners

  1. results provide a link between CEP290 and DNA replication stress and suggest CDK (show CDK4 ELISA Kits) inhibition as a potential treatment strategy for a wide range of ciliopathy syndromes.

  2. study proposes that Cep290 and Cep72 in centriolar satellites regulate the ciliary localization of BBS4, which in turn affects assembly and recruitment of the BBSome.

  3. Rkip (show PEBP1 ELISA Kits) prevents cilia formation and is associated with Cep290-mediated photoreceptor degeneration.

  4. the N-terminal region of the CEP290 protein is sufficient to restore visual function and this region may be a viable gene therapy target for Lebers disease patients with mutations in CEP290

  5. The N-terminal domain of NPHP5 (show IQCB1 ELISA Kits) physically interacted with NPHP6.

Human Centrosomal Protein 290kDa (CEP290) interaction partners

  1. Two novel variants were detected: c.2536G>T (p.G846X) in the CRB1 (show CRB1 ELISA Kits) gene and c.4929delA (p.Lys1643fsX2) in the CEP290 gene.

  2. NPHP5 (show IQCB1 ELISA Kits) and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.

  3. The natural history of early loss of photoreceptor function with retained cone cell nuclei is common to both CEP290-Leber congenital amaurosis patients and the rd16;Nrl (show NRL ELISA Kits)-/- murine model.

  4. results provide a link between CEP290 and DNA replication stress and suggest CDK (show CDK4 ELISA Kits) inhibition as a potential treatment strategy for a wide range of ciliopathy syndromes.

  5. DDA3 (show PSRC1 ELISA Kits) controls astral spindle formation and spindle positioning by targeting Cep290 to the centrosome. Depletion of Cep290 caused a reduction of the astral spindle, leading to misorientation of the mitotic spindle.

  6. mutation in CEP290 gene in all three affected siblings.This novel 1-bp deletion results in a frameshift mutation leading to a premature stop codon and a truncated protein

  7. The novel centriolar satellite protein SSX2IP (show SSX2IP ELISA Kits) targets Cep290 to the ciliary transition zone.

  8. Data indicate that genetic interactions between BBSome components and CEP290 could underlie the variable expression and overlapping phenotypes of ciliopathies caused by CEP290 mutations.

  9. Here we discuss many of these diverse aspects of CEP290 biology and pathology in an attempt to link what we know about the molecular mechanisms of CEP290 function with what we know about CEP290-associated disease.

  10. Talpid3 and Cep290 play overlapping and distinct roles in ciliary vesicle formation through regulation of centriolar satellite accretion and Rab8a (show RAB8A ELISA Kits)

CEP290 Antigen Profile

Antigen Summary

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.

Gene names and symbols associated with CEP290

  • centrosomal protein 290kDa (CEP290) antibody
  • centrosomal protein 290kDa (cep290) antibody
  • centrosomal protein 290 (Cep290) antibody
  • centrosomal protein 290 (cep290) antibody
  • centrosomal protein 290kDa (Cep290) antibody
  • 3H11Ag antibody
  • b2b1454Clo antibody
  • b2b1752Clo antibody
  • BBS14 antibody
  • BC004690 antibody
  • CT87 antibody
  • im:7145703 antibody
  • im:7147820 antibody
  • JBTS5 antibody
  • jbts6 antibody
  • LCA10 antibody
  • MGC81471 antibody
  • MKS4 antibody
  • NPHP6 antibody
  • POC3 antibody
  • rd16 antibody
  • RGD1311640 antibody
  • sh11ag antibody
  • SLSN6 antibody

Protein level used designations for CEP290

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

GENE ID SPECIES
417887 Gallus gallus
432158 Xenopus laevis
482591 Canis lupus familiaris
708286 Macaca mulatta
100021346 Monodelphis domestica
100080813 Ornithorhynchus anatinus
100113471 Felis catus
100144438 Xenopus (Silurana) tropicalis
100411810 Callithrix jacchus
100458948 Pongo abelii
100470363 Ailuropoda melanoleuca
100543655 Meleagris gallopavo
100586893 Nomascus leucogenys
314787 Rattus norvegicus
216274 Mus musculus
560588 Danio rerio
80184 Homo sapiens
282707 Bos taurus
100723393 Cavia porcellus
100524992 Sus scrofa
101109526 Ovis aries
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