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KCTD7 Antibody, HRP conjugated

  • 中文名稱：
    KCTD7兔多克隆抗體, HRP偶聯(lián)
  • 貨號(hào)：
    CSB-PA850395LB01HU
  • 規(guī)格：
    ￥880
  • 其他：

產(chǎn)品詳情

  • 產(chǎn)品名稱：
    Rabbit anti-Homo sapiens (Human) KCTD7 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    KCTD7
  • 別名：
    KCTD7 antibody; BTB/POZ domain-containing protein KCTD7 antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human
  • 免疫原：
    Recombinant Human BTB/POZ domain-containing protein KCTD7 protein (5-152AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標(biāo)記方式：
    HRP
  • 克隆類型：
    Polyclonal
  • 抗體亞型：
    IgG
  • 純化方式：
    >95%, Protein G purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 產(chǎn)品提供形式：
    Liquid
  • 應(yīng)用范圍：
    ELISA
  • Protocols：
  • 儲(chǔ)存條件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期：
    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.
  • 用途：
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能：
    May be involved in the control of excitability of cortical neurons.
  • 基因功能參考文獻(xiàn)：
    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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  • 相關(guān)疾?。?/div>
    Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3)
  • 亞細(xì)胞定位：
    Cell membrane. Cytoplasm, cytosol.
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 21957

    OMIM: 611725

    KEGG: hsa:154881

    UniGene: Hs.546627