CEP78 Antibody
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货号:CSB-PA001588
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规格:¥880
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图片:
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其他:
产品详情
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Uniprot No.:Q5JTW2
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基因名:CEP78
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别名:CEP78 antibody; C9orf81 antibody; Centrosomal protein of 78 kDa antibody; Cep78 antibody
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宿主:Rabbit
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反应种属:Human,Mouse
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免疫原:Synthesized peptide derived from the Internal region of Human CEP78.
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免疫原种属:Homo sapiens (Human)
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标记方式:Non-conjugated
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抗体亚型:IgG
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纯化方式:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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浓度:It differs from different batches. Please contact us to confirm it.
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保存缓冲液:Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
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产品提供形式:Liquid
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应用范围:WB, IHC, ELISA
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推荐稀释比:
Application Recommended Dilution WB 1:500-1:2000 IHC 1:100-1:300 ELISA 1:20000 -
Protocols:
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储存条件:Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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货期:Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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靶点详情
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功能:May be required for efficient PLK4 centrosomal localization and PLK4-induced overduplication of centrioles. May play a role in cilium biogenesis.
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基因功能参考文献:
- Our results provide evidence that CEP78 is a novel disease-causing gene for Usher syndrome, demonstrating an additional link between ciliopathy and Usher protein network in photoreceptor cells and inner ear hair cells. PMID: 27627988
- we identify Cep78 as a new player that regulates centrosome homeostasis by inhibiting the final step of the enzymatic reaction catalyzed by EDD-DYRK2-DDB1(Vpr)(BP). PMID: 28242748
- the interaction between Cep78 and the N-terminal catalytic domain of Plk4 is a new and important element in the centrosome overduplication process. PMID: 27246242
- data strongly suggest that mutations in CEP78 cause a previously undescribed clinical entity of a ciliary nature characterized by blindness and deafness but clearly distinct from Usher syndrome, a condition for which visual impairment is due to retinitis pigmentosa PMID: 27588451
- truncating mutations in CEP78 result in a phenotype involving both the visual and auditory systems but different from typical Usher syndrome PMID: 27588452
- CEP78 functions as a tumor suppressor in colorectal cancer and low CEP78 expression leads to shorter survival in colorectal cancer patients. PMID: 27357513
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相关疾病:Cone-rod dystrophy and hearing loss (CRDHL)
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亚细胞定位:Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body.
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蛋白家族:CEP78 family
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组织特异性:Widely expressed. Expressed in different retinal cell types with higher expression in cone compared to rod cells (at protein level).
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数据库链接:
HGNC: 25740
OMIM: 617110
KEGG: hsa:84131
STRING: 9606.ENSP00000365782
UniGene: Hs.187621
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