免疫原
The antiserum was produced against synthesized peptide derived from human CEP290. AA range:771-820
特异性
CEP290 Polyclonal Antibody detects endogenous levels of CEP290 protein.
来源
Polyclonal, Rabbit,IgG
组成（Formulation）
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
稀释比例
Western Blot: 1/500 - 1/2000. ELISA: 1/20000. Not yet tested in other applications.
纯化工艺（Immunogen）
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
背景（Background）
centrosomal protein 290(CEP290) Homo sapiens 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],
功能
disease:Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not in the healthy control population.,disease:Defects in CEP290 are a cause of Joubert syndrome type 5 (JBTS5) [MIM:610188]. Joubert syndrome is an autosomal recessive disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (the 'molar tooth sign' on axial magnetic resonance imaging), psychomotor delay, hypotonia, ataxia, oculomotor apraxia and neonatal breathing abnormalities. JBTS5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis.,disease:Defects in CEP290 are a cause of Senior-Loken syndrome type 6 (SLSN6) [MIM:610189]. Senior-Loken syndrome is also known as juvenile nephronophthisis with Leber amaurosis. It is a
蛋白名称
Centrosomal protein of 290 kDa
其他名称
CEP290; BBS14; KIAA0373; NPHP6; Centrosomal protein of 290 kDa; Cep290; Bardet-Biedl syndrome 14 protein; Cancer/testis antigen 87; CT87; Nephrocystin-6; Tumor antigen se2-2
细胞定位
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite . Nucleus . Cell projection, cilium . Cytoplasm, cytoskeleton, cilium basal body . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole . Cytoplasmic vesicle . Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock (PubMed:24121310). Found in the connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells (By similarity). Localizes at the transition zone, a region between the basal body and the ciliary axoneme (PubMed:23943788). Localization at the ciliary transition zone as well as at centriolar sa
组织表达
Ubiquitous. Expressed strongly in placenta and weakly in brain.
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