CEP290 产品
(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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CEP290 抗体
High quality antibodies with extensive validation data.
CEP290 ELISA试剂盒
Reliable ELISA kits for a wide range of species.
Recommended CEP290 抗体
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ABIN334371
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ABIN570714
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Recommended CEP290 ELISA试剂盒
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ABIN1742835
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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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