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KCTD7 Antibody

  • 货号：
    CSB-PA941590
  • 规格：
    ￥880
  • 图片：
    • Western Blot analysis of 1,mouse-brain 2,mouse-spleen cells using primary antibody diluted at 1:1000(4°C overnight). Secondary antibody:Goat Anti-rabbit IgG IRDye 800( diluted at 1:5000, 25°C, 1 hour)
  • 其他：

产品详情

  • Uniprot No.：
    Q96MP8
  • 基因名：
    KCTD7
  • 别名：
    KCTD7 antibody; BTB/POZ domain-containing protein KCTD7 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Synthesized peptide derived from Human KCTD7. at AA range: 181-230
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 产品提供形式：
    Liquid
  • 应用范围：
    WB,ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-2000
    ELISA 1:10000-20000
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 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.

产品评价

靶点详情

  • 功能：
    May be involved in the control of excitability of cortical neurons.
  • 基因功能参考文献：
    1. KCTD7 has an impact on K+ fluxes, neurotransmitter synthesis and neuronal function, and that malfunction of the encoded protein may lead to progressive myoclonus epilepsy. PMID: 27742667
    2. reviews the phenotype of progressive myoclonic epilepsy associated with KCTD7 mutations [review] PMID: 27629772
    3. This study identified that novel KCTD7 mutation in patients with progressive myoclonus epilepsy with ataxia. PMID: 25060828
    4. The KCTD7 gene, previously associated with progressive myoclonus epilepsies (PMEs) in a single inbred family, was screened for mutations in 18 Turkish PME patients. PMID: 22693283
    5. this study clearly demonstrates that KCTD7 mutations also cause a rare, infantile-onset NCL subtype designated as CLN14. PMID: 22748208
    6. We found a C to T mutation in exon 2 of the potassium channel tetramerization domain containing 7 gene(KCTD7)in a progressive myoclonic epilepsy family affecting a highly conserved segment of the predicted protein changing an arginine codon to a stop. PMID: 17455289

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  • 相关疾病：
    Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3)
  • 亚细胞定位：
    Cell membrane. Cytoplasm, cytosol.
  • 数据库链接：

    HGNC: 21957

    OMIM: 611725

    KEGG: hsa:154881

    UniGene: Hs.546627