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CEP290 抗体

(Centrosomal Protein 290kDa (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].
CEP290 抗体  (Internal Region) CEP290 抗体  (Internal Region) CEP290 抗体 (Internal Region) (ABIN334371)

Verified CEP290 适用: 人 ELISA, IHC, IF 宿主: 山羊 Polyclonal unconjugated

CEP290 抗体  (Internal Region) CEP290 抗体  (Internal Region) CEP290 抗体 (Internal Region) (ABIN570714)

Verified CEP290 适用: 人 ELISA, IHC, ICC 宿主: 山羊 Polyclonal unconjugated

CEP290 抗体  (Internal Region) CEP290 抗体  (Internal Region) CEP290 抗体 (Internal Region) (ABIN6257056)

CEP290 适用: 人, 小鼠 ELISA, WB, IF, ICC 宿主: 兔 Polyclonal unconjugated

CEP290 抗体 by Grade

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Find CEP290 抗体 for a variety of species such as anti-Human CEP290, anti-Mouse CEP290, anti-Rat CEP290. The species listed below are among those available. Click on a link to go to the corresponding products.

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Popular CEP290 抗体

Product
Reactivity
Application
Validations
Cat. No.
Quantity
Datasheet
Reactivity Human
Application ELISA, IHC, IF
Validations
  • (3)
Cat. No. ABIN334371
Quantity 100 μg
Datasheet Datasheet
Reactivity Human
Application ELISA, IHC, ICC
Validations
  • (3)
Cat. No. ABIN570714
Quantity 100 μg
Datasheet Datasheet
Reactivity Human, Mouse
Application ELISA, WB, IF, ICC
Validations
  • (2)
Cat. No. ABIN6257056
Quantity 100 μL
Datasheet Datasheet
Reactivity Human, Mouse
Application ELISA, WB
Validations
  • (1)
Cat. No. ABIN3183860
Quantity 100 μL
Datasheet Datasheet
Reactivity Human
Application WB
Validations
  • (1)
Cat. No. ABIN7266277
Quantity 100 μL
Datasheet Datasheet
Reactivity Mouse
Application ELISA, IF (cc), IF (p), ICC, IHC (p), IHC (fro)
Validations
Cat. No. ABIN6942529
Quantity 100 μL
Datasheet Datasheet
Reactivity Mouse
Application ELISA, IHC (p), IHC (fro)
Validations
Cat. No. ABIN6942530
Quantity 100 μL
Datasheet Datasheet
Reactivity Mouse
Application IF (cc), IF (p)
Validations
Cat. No. ABIN6942531
Quantity 100 μL
Datasheet Datasheet
Reactivity Mouse
Application IF (cc), IF (p)
Validations
Cat. No. ABIN6942532
Quantity 100 μL
Datasheet Datasheet
Reactivity Mouse
Application IF (cc), IF (p)
Validations
Cat. No. ABIN6942533
Quantity 100 μL
Datasheet Datasheet
Reactivity Mouse
Application IF (cc), IF (p)
Validations
Cat. No. ABIN6942534
Quantity 100 μL
Datasheet Datasheet
Reactivity Mouse
Application IF (cc), IF (p)
Validations
Cat. No. ABIN6942535
Quantity 100 μL
Datasheet Datasheet
Reactivity Mouse
Application IF (cc), IF (p)
Validations
Cat. No. ABIN6942536
Quantity 100 μL
Datasheet Datasheet
Reactivity Mouse
Application IF (cc), IF (p)
Validations
Cat. No. ABIN6942537
Quantity 100 μL
Datasheet Datasheet
Reactivity Mouse
Application IF (cc), IF (p)
Validations
Cat. No. ABIN6942538
Quantity 100 μL
Datasheet Datasheet

Latest Publications for our CEP290 抗体

Barny, Perrault, Michel, Soussan, Goudin, Rio, Thomas, Attié-Bitach, Hamel, Dollfus, Kaplan, Rozet, Gerard: "Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease." in: Human molecular genetics, (2018) (PubMed).

Dulla, Aguila, Lane, Jovanovic, Parfitt, Schulkens, Chan, Schmidt, Beumer, Vorthoren, Collin, Garanto, Duijkers, Brugulat-Panes, Semo, Vugler, Biasutto, Adamson, Cheetham: "Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models." in: Molecular therapy. Nucleic acids, Vol. 12, pp. 730-740, (2018) (PubMed).

Bangs, Schrode, Hadjantonakis, Anderson: "Lineage specificity of primary cilia in the mouse embryo." in: Nature cell biology, Vol. 17, Issue 2, pp. 113-22, (2015) (PubMed).

Alby, Piquand, Huber, Megarbané, Ichkou, Legendre, Pelluard, Encha-Ravazi, Abi-Tayeh, Bessières, El Chehadeh-Djebbar, Laurent, Faivre, Sztriha, Zombor, Szabó, Failler, Garfa-Traore, Bole, Nitschké et al.: "Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. ..." in: American journal of human genetics, Vol. 97, Issue 2, pp. 311-8, (2015) (PubMed).

Slaats, Saldivar, Bacal, Zeman, Kile, Hynes, Srivastava, Nazmutdinova, den Ouden, Zagers, Foletto, Verhaar, Miles, Sayer, Cimprich, Giles: "DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome." in: The Journal of clinical investigation, Vol. 125, Issue 9, pp. 3657-66, (2015) (PubMed).

Garanto, van Beersum, Peters, Roepman, Cremers, Collin: "Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis." in: PLoS ONE, Vol. 8, Issue 11, pp. e79369, (2013) (PubMed).

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, Vol. 20, Issue 13, pp. 2524-34, (2011) (PubMed).

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, Vol. 118, Issue 5, pp. 1955-64, (2008) (PubMed).

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, Vol. 104, Issue 40, pp. 15917-22, (2007) (PubMed).

Kurtenbach, Gießl, Strömberg, Kremers, Atorf, Rasche, Neuhaus, Hervé, Brandstätter, Asan, Hatt, Kilimann: "The BEACH Protein LRBA Promotes the Localization of the Heterotrimeric G-protein Golfto Olfactory Cilia." in: Scientific reports, Vol. 7, Issue 1, pp. 8409 (PubMed).

Aliases for CEP290 抗体

centrosomal protein 290 (CEP290) 抗体
centrosomal protein 290 L homeolog (cep290.L) 抗体
centrosomal protein 290kDa (CEP290) 抗体
centrosomal protein 290 (cep290) 抗体
centrosomal protein 290 (Cep290) 抗体
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