CEP290 Products
(Centrosomal Protein 290kDa (CEP290))
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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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Featured CEP290 Categories
CEP290 Antibodies
High quality antibodies with extensive validation data.
CEP290 ELISA Kits
Reliable ELISA kits for a wide range of species.
Recommended CEP290 Antibodies
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
Recommended CEP290 ELISA Kits
Product
Reactivity
Analytical Method
Validations
Cat. No.
Quantity
Datasheet
Reactivity
Human
Analytical Method
Validations
- (1)
Cat. No.
ABIN1742835
Quantity
96 tests
Datasheet
Datasheet
Reactivity
Sheep
Analytical Method
Validations
Cat. No.
ABIN1773739
Quantity
96 tests
Datasheet
Datasheet
Reactivity
Mouse
Analytical Method
Quantitative Competition ELISA
Validations
Cat. No.
ABIN1745275
Quantity
96 tests
Datasheet
Datasheet
Recommended CEP290 Proteins
Product
Reactivity
Source
Validations
Cat. No.
Quantity
Datasheet
Reactivity
Human
Source
Wheat germ
Validations
- (1)
Cat. No.
ABIN1349148
Quantity
10 μg
Datasheet
Datasheet
Latest Publications for our CEP290 products
: "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).: "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).
: "Lineage specificity of primary cilia in the mouse embryo." in: 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. ..." in: 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." in: 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." in: 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." in: 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." in: 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." in: 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." in: Scientific reports, Vol. 7, Issue 1, pp. 8409 (PubMed).
Synonyms and alternative names related to 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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