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  4. TMEM65 Antibody, FITC conjugated

TMEM65 Antibody, FITC conjugated

  • 中文名稱：
    TMEM65兔多克隆抗體, FITC偶聯
  • 貨號：
    CSB-PA023869LC01HU
  • 規格：
    ￥880
  • 其他：

產品詳情

  • 產品名稱：
    Rabbit anti-Homo sapiens (Human) TMEM65 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    TMEM65
  • 別名：
    TMEM65; Transmembrane protein 65
  • 宿主：
    Rabbit
  • 反應種屬：
    Human
  • 免疫原：
    Recombinant Human Transmembrane protein 65 protein (63-240AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標記方式：
    FITC
  • 克隆類型：
    Polyclonal
  • 抗體亞型：
    IgG
  • 純化方式：
    Antigen Affinity 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
  • 產品提供形式：
    Liquid
  • 儲存條件：
    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.

產品評價

靶點詳情

  • 功能：
    May play an important role in cardiac development and function. May regulate cardiac conduction and the function of the gap junction protein GJA1. May contribute to the stability and proper localization of GJA1 to cardiac intercalated disk thereby regulating gap junction communication. May also play a role in the regulation of mitochondrial respiration and mitochondrial DNA copy number maintenance.
  • 基因功能參考文獻：
    1. A novel homozygous splice variant (c.472+1G>A) in the TMEM65 gene identified in a patient with mitochondrial encephalomyopathy. TMEM65 mutation severely affected mitochondrial content and respiration rate in dermal fibroblasts. PMID: 28295037
  • 相關疾病：
    Defects in TMEM65 may cause a mitochondrial disorder characterized by a complex encephalomyopathic phenotype. Clinical features includ microcephaly, dysmorphic features, psychomotor regression, hypotonia, growth retardation, lactic acidosis, intractable seizures, dyskenetics movements, without cardiomyopathy (PubMed:28295037).
  • 亞細胞定位：
    Cell membrane; Multi-pass membrane protein. Mitochondrion inner membrane; Multi-pass membrane protein.
  • 組織特異性：
    Predominantly expressed the ventricular tissue (at protein level).
  • 數據庫鏈接：

    HGNC: 25203

    OMIM: 616609

    KEGG: hsa:157378

    STRING: 9606.ENSP00000297632

    UniGene: Hs.100691



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