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anti-Rat (Rattus) CEP290 Antibodies:
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Human Polyclonal CEP290 Primary Antibody for ICC, IF - ABIN257723
Hopp, Heyer, Hommerding, Henke, Sundsbak, Patel, Patel, Consugar, Czarnecki, Gliem, Torres, Rossetti, Harris: B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. in Human molecular genetics 2011
Show all 7 Pubmed References
Human Polyclonal CEP290 Primary Antibody for ELISA - ABIN548166
McEwen, Koenekoop, Khanna, Jenkins, Lopez, Swaroop, Martens: Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. in Proceedings of the National Academy of Sciences of the United States of America 2007
Human Polyclonal CEP290 Primary Antibody for ELISA, IF - ABIN4297735
Allocca, Doria, Petrillo, Colella, Garcia-Hoyos, Gibbs, Kim, Maguire, Rex, Di Vicino, Cutillo, Sparrow, Williams, Bennett, Auricchio: Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice. in The Journal of clinical investigation 2008
These findings indicate that antisense oligonucleotide treatment may represent a promising therapeutic approach for kidney disease in CEP290-associated ciliopathy syndromes.
Study describes a mouse model of Leber's Congenital Amaurosis type 10 with in-frame mutation in Cep290 gene. The mutants show a rapid retinal degeneration in the rod-rich mouse retina .
Together with a physical interaction between RPGR and the C-terminal domain of CEP290, our data suggest that RPGR and CEP290 genetically interact and highlight the involvement of hypomorphic alleles of genes as potential modifiers of heterogeneous retinal ciliopathies.
Cep290(ko/ko) mice exhibit early vision loss and die from hydrocephalus.
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-/- murine model.
results provide a link between CEP290 and DNA replication stress and suggest CDK inhibition as a potential treatment strategy for a wide range of ciliopathy syndromes.
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.
The novel centriolar satellite protein SSX2IP targets Cep290 to the ciliary transition zone.
Data indicate that genetic interactions between BBSome components and CEP290 could underlie the variable expression and overlapping phenotypes of ciliopathies caused by CEP290 mutations.
Combinations of Cep290rd16 & Mkksko alleles improved ciliogenesis & sensory functions vs either mutant alone. Altered association of CEP290 & MKKS affects multiprotein complex integrity at the cilia transition zone & basal body.
Rkip prevents cilia formation and is associated with Cep290-mediated photoreceptor degeneration.
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
a CEP290/NPHP6 mutation perturbs its interaction with RPGR and results in early-onset retinal degeneration
identified mutations in the CEP290 gene in five families with variable neurological, retinal and renal manifestations
CEP290 is a key mediator involved in G protein trafficking. The assessment of olfactory function can, therefore, serve as a useful diagnostic tool for genetic screening of certain syndromic ciliary diseases.
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.
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
The N-terminal domain of NPHP5 physically interacted with NPHP6.
A human CEP290 domain encoded by amino acids 580-1180 (miniCEP290(580-1180)) was identified that can recover the cilia length in vitro. Subretinal injection of AAV particles carrying the cDNA expressing miniCEP290580-1180 into neonatal Cep290rd16 mice resulted in significantly improved photoreceptor survival, morphology, and function compared to control injected mice.
Arima syndrome patients had a specific CEP290 homozygous variant or compound heterozygous variants. These unique variants lead to abnormal splicing and premature termination. Morphological analysis of cultured fibroblasts revealed a marked decrease of the CEP290-positive cell number with significantly longer cilium and naked and protruded ciliary axoneme without ciliary membrane into the cytoplasm.
Kidney disease occurs in up to one third of patients with Joubert syndrome, most commonly in those with mutations in CEP290, TMEM67, and AHI1.
One of the more common molecular subtypes of LCA is caused by mutation in the gene encoding CEP290 (Centrosomal protein 290), which has been localized in the outer retina to the photoreceptor cilium
our data highlight the tremendous therapeutic prospective of AONs for the treatment of not only CEP290-associated Leber congenital amaurosis (LCA)but potentially many other subtypes of retinal dystrophy caused by splicing mutations
We identified eight mutated genes in 27 (21 + 6) Japanese families, TMEM67 (7/27, 25.9%) and CEP290 (6/27, 22.2%) were the most commonly mutated. Interestingly, 9 of 12 CEP290 disease alleles were c.6012-12T>A (75.0%), an allele that has not been reported in non-Japanese populations
We identified four novel CNVs in three different genes (one duplication in USH2A gene, two duplications in CEP290 gene, and one duplication in RIMS2 gene) in total four families, at a detection rate of 8% (4/50).
Two novel variants were detected: c.2536G>T (p.G846X) in the CRB1 gene and c.4929delA (p.Lys1643fsX2) in the CEP290 gene.
NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
DDA3 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.
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
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.
Talpid3 and Cep290 play overlapping and distinct roles in ciliary vesicle formation through regulation of centriolar satellite accretion and Rab8a
NPHP5 mutations impair protein interaction with Cep290 and localize to centrosomes, thereby compromising cilia formation.
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.
centrosomal protein 290kDa
, 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
, prostate cancer antigen T21
, tumor antigen se2-2