C12orf57 Antibody
产品详情
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产品名称:Rabbit anti-Homo sapiens (Human) C12orf57 Polyclonal antibody
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Uniprot No.:Q99622
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基因名:C12orf57
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别名:C10_HUMAN antibody; C12orf57 antibody; Protein C10 antibody
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宿主:Rabbit
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反应种属:Human
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免疫原:Recombinant Human Protein C10 protein (2-126AA)
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免疫原种属:Homo sapiens (Human)
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标记方式:Non-conjugated
本页面中的产品,C12orf57 Antibody (CSB-PA859105LA01HU),的标记方式是Non-conjugated。对于C12orf57 Antibody,我们还提供其他标记。见下表:
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克隆类型:Polyclonal
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抗体亚型:IgG
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纯化方式:>95%, Protein G purified
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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:Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4 -
产品提供形式:Liquid
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应用范围:ELISA
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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:In brain, may be required for corpus callosum development.
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基因功能参考文献:
- Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. PMID: 24798461
- The findings strongly support the candidacy of C12orf57 as a gene that is mutated in a distinct syndromic form of colobomatous microphthalmia in humans. PMID: 23453665
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相关疾病:Temtamy syndrome (TEMTYS)
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亚细胞定位:Cytoplasm.
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蛋白家族:UPF0456 family
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组织特异性:Ubiquitously expressed, with higher expression in lung and fetal brain.
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数据库链接:
HGNC: 29521
OMIM: 218340
KEGG: hsa:113246
STRING: 9606.ENSP00000229281
UniGene: Hs.405913
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