ABIN257723
antibody from antibodies-online
Targeting: CEP290
3H11Ag, BBS14, CT87, FLJ13615, JBTS5, KIAA0373, LCA10, MKS4, NPHP6, POC3, rd16, SLSN6
Antibody data
- Antibody Data
- Antigen structure
- References [6]
- Comments [0]
- Validations
- Western blot [2]
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- Product number
- ABIN257723 - Provider product page
- Provider
- antibodies-online
- Product name
- anti-Centrosomal Protein 290kDa (CEP290) (AA 2429-2479) antibody
- Antibody type
- Polyclonal
- Description
- Immunogen affinity purified
- Reactivity
- Human, Mouse
- Host
- Rabbit
- Epitope
- AA 2429-2479
- Isotype
- IgG
- Vial size
- 100 μL
- Storage
- Store at 4°C. Do not freeze.
- Handling
- Do not freeze.
Submitted references The BEACH Protein LRBA Promotes the Localization of the Heterotrimeric G-protein Golf to Olfactory Cilia.
DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.
Lineage specificity of primary cilia in the mouse embryo.
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
Kurtenbach S, Gießl A, Strömberg S, Kremers J, Atorf J, Rasche S, Neuhaus EM, Hervé D, Brandstätter JH, Asan E, Hatt H, Kilimann MW
Scientific reports 2017 Aug 16;7(1):8409
Scientific reports 2017 Aug 16;7(1):8409
DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.
Slaats GG, Saldivar JC, Bacal J, Zeman MK, Kile AC, Hynes AM, Srivastava S, Nazmutdinova J, den Ouden K, Zagers MS, Foletto V, Verhaar MC, Miles C, Sayer JA, Cimprich KA, Giles RH
The Journal of clinical investigation 2015 Sep;125(9):3657-66
The Journal of clinical investigation 2015 Sep;125(9):3657-66
Lineage specificity of primary cilia in the mouse embryo.
Bangs FK, Schrode N, Hadjantonakis AK, Anderson KV
Nature cell biology 2015 Feb;17(2):113-22
Nature cell biology 2015 Feb;17(2):113-22
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, Szabó H, Failler M, Garfa-Traore M, Bole C, Nitschké P, Nizon M, Elkhartoufi N, Clerget-Darpoux F, Munnich A, Lyonnet S, Vekemans M, Saunier S, Cormier-Daire V, Attié-Bitach T, Thomas S
American journal of human genetics 2015 Aug 6;97(2):311-8
American journal of human genetics 2015 Aug 6;97(2):311-8
Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.
Garanto A, van Beersum SE, Peters TA, Roepman R, Cremers FP, Collin RW
PloS one 2013;8(11):e79369
PloS one 2013;8(11):e79369
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
Hopp K, Heyer CM, Hommerding CJ, Henke SA, Sundsbak JL, Patel S, Patel P, Consugar MB, Czarnecki PG, Gliem TJ, Torres VE, Rossetti S, Harris PC
Human molecular genetics 2011 Jul 1;20(13):2524-34
Human molecular genetics 2011 Jul 1;20(13):2524-34
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Supportive validation
- Submitted by
- antibodies-online (provider)
- Main image
- Experimental details
- WB
- Submitted by
- antibodies-online (provider)
- Main image
- Experimental details
- WB