CEP290 Produits
(Centrosomal Protein 290kDa (CEP290))
Catégories
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].
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Catégories CEP290 en vedette
CEP290 Anticorps
High quality antibodies with extensive validation data.
CEP290 Kits ELISA
Reliable ELISA kits for a wide range of species.
CEP290 recommandé Anticorps
Produit
Reactivity
Application
Validations
N° du produit
Quantité
Fiche technique
Reactivity
Human
Application
ELISA, IHC, IF
Validations
- (3)
N° du produit
ABIN334371
Quantité
100 μg
Fiche technique
Fiche technique
Reactivity
Human
Application
ELISA, IHC, ICC
Validations
- (3)
N° du produit
ABIN570714
Quantité
100 μg
Fiche technique
Fiche technique
Reactivity
Human, Mouse
Application
ELISA, WB, IF, ICC
Validations
- (2)
N° du produit
ABIN6257056
Quantité
100 μL
Fiche technique
Fiche technique
CEP290 recommandé Kits ELISA
Produit
Reactivity
Analytical Method
Validations
N° du produit
Quantité
Fiche technique
Reactivity
Human
Analytical Method
Validations
- (1)
N° du produit
ABIN1742835
Quantité
96 tests
Fiche technique
Fiche technique
Reactivity
Sheep
Analytical Method
Validations
N° du produit
ABIN1773739
Quantité
96 tests
Fiche technique
Fiche technique
Reactivity
Mouse
Analytical Method
Quantitative Competition ELISA
Validations
N° du produit
ABIN1745275
Quantité
96 tests
Fiche technique
Fiche technique
CEP290 recommandé Protéines
Produit
Reactivity
Source
Validations
N° du produit
Quantité
Fiche technique
Reactivity
Human
Source
Wheat germ
Validations
- (1)
N° du produit
ABIN1349148
Quantité
10 μg
Fiche technique
Fiche technique
Dernières publications sur nos produits CEP290
: "Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease." dans: Human molecular genetics, (2018) (PubMed).: "Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models." dans: Molecular therapy. Nucleic acids, Vol. 12, pp. 730-740, (2018) (PubMed).
: "Lineage specificity of primary cilia in the mouse embryo." dans: Nature cell biology, Vol. 17, Issue 2, pp. 113-22, (2015) (PubMed).
: "Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. ..." dans: American journal of human genetics, Vol. 97, Issue 2, pp. 311-8, (2015) (PubMed).
: "DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome." dans: The Journal of clinical investigation, Vol. 125, Issue 9, pp. 3657-66, (2015) (PubMed).
: "Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis." dans: PLoS ONE, Vol. 8, Issue 11, pp. e79369, (2013) (PubMed).
: "B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis." dans: Human molecular genetics, Vol. 20, Issue 13, pp. 2524-34, (2011) (PubMed).
: "Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice." dans: The Journal of clinical investigation, Vol. 118, Issue 5, pp. 1955-64, (2008) (PubMed).
: "Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons." dans: Proceedings of the National Academy of Sciences of the United States of America, Vol. 104, Issue 40, pp. 15917-22, (2007) (PubMed).
: "The BEACH Protein LRBA Promotes the Localization of the Heterotrimeric G-protein Golfto Olfactory Cilia." dans: Scientific reports, Vol. 7, Issue 1, pp. 8409 (PubMed).
Synonymes et noms alternatifs relatifs à CEP290
centrosomal protein 290 (CEP290), centrosomal protein 290 L homeolog (cep290.L), centrosomal protein 290kDa (CEP290), centrosomal protein 290 (cep290), centrosomal protein 290 (Cep290), 3h11ag, 3H11Ag, b2b1454Clo, b2b1752Clo, bbs14, BBS14, BC004690, ct87, CT87, im:7145703, im:7147820, jbts5, JBTS5, jbts6, lca10, LCA10, MGC81471, mks4, MKS4, nphp6, Nphp6, NPHP6, POC3, rd16, RGD1311640, sh11ag, slsn6, SLSN6Protein 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
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