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].
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45 results :
Verified
CEP290
适用: 人
ELISA, IHC, IF
宿主: 山羊
Polyclonal
unconjugated
Verified
CEP290
适用: 人
ELISA, IHC, ICC
宿主: 山羊
Polyclonal
unconjugated
CEP290
适用: 人, 小鼠
ELISA, WB, IF, ICC
宿主: 兔
Polyclonal
unconjugated
CEP290
适用: 小鼠
ELISA, IF (cc), IF (p), ICC, IHC (p), IHC (fro)
宿主: 兔
Polyclonal
unconjugated
CEP290
适用: 小鼠
IF (cc), IF (p)
宿主: 兔
Polyclonal
AbBy Fluor® 680
CEP290
适用: 小鼠
IF (cc), IF (p)
宿主: 兔
Polyclonal
AbBy Fluor® 488
CEP290
适用: 小鼠
IF (cc), IF (p)
宿主: 兔
Polyclonal
AbBy Fluor® 555
CEP290
适用: 小鼠
IF (cc), IF (p)
宿主: 兔
Polyclonal
AbBy Fluor® 750
CEP290
适用: 小鼠
IF (cc), IF (p)
宿主: 兔
Polyclonal
AbBy Fluor® 647
CEP290
适用: 小鼠
IF (cc), IF (p)
宿主: 兔
Polyclonal
AbBy Fluor® 350
CEP290
适用: 小鼠
IF (cc), IF (p)
宿主: 兔
Polyclonal
AbBy Fluor® 594
Latest Publications for our CEP290 抗体
: "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).
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
3h11ag 抗体
3H11Ag 抗体
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b2b1752Clo 抗体
bbs14 抗体
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ct87 抗体
CT87 抗体
im:7145703 抗体
im:7147820 抗体
jbts5 抗体
JBTS5 抗体
jbts6 抗体
lca10 抗体
LCA10 抗体
MGC81471 抗体
mks4 抗体
MKS4 抗体
nphp6 抗体
Nphp6 抗体
NPHP6 抗体
POC3 抗体
rd16 抗体
RGD1311640 抗体
sh11ag 抗体
slsn6 抗体
SLSN6 抗体
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