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  4. C12orf65 Antibody

C12orf65 Antibody

  • 中文名稱：
    C12orf65兔多克隆抗體
  • 貨號：
    CSB-PA880965LA01HU
  • 規格：
    ￥440
  • 圖片：
    • Immunohistochemistry of paraffin-embedded human colon cancer using CSB-PA880965LA01HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human kidney tissue using CSB-PA880965LA01HU at dilution of 1:100
  • 其他：

產品詳情

  • 產品名稱：
    Rabbit anti-Homo sapiens (Human) C12orf65 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    C12orf65
  • 別名：
    C12orf65 antibody; My030Probable peptide chain release factor C12orf65 antibody; mitochondrial antibody
  • 宿主：
    Rabbit
  • 反應種屬：
    Human
  • 免疫原：
    Recombinant Human Probable peptide chain release factor C12orf65, mitochondrial protein (36-166AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標記方式：
    Non-conjugated

    本頁面中的產品，C12orf65 Antibody (CSB-PA880965LA01HU)，的標記方式是Non-conjugated。對于C12orf65 Antibody，我們還提供其他標記。見下表：

    可提供標記
    標記方式 貨號 產品名稱 應用
    HRP CSB-PA880965LB01HU C12orf65 Antibody, HRP conjugated ELISA
    FITC CSB-PA880965LC01HU C12orf65 Antibody, FITC conjugated
    Biotin CSB-PA880965LD01HU C12orf65 Antibody, Biotin conjugated ELISA
  • 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
  • 產品提供形式：
    Liquid
  • 應用范圍：
    ELISA, IHC
  • 推薦稀釋比：
    Application Recommended Dilution
    IHC 1:20-1:200
  • Protocols：
  • 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：
    Part of a mitoribosome-associated quality control pathway that prevents aberrant translation by responding to interruptions during elongation. As heterodimer with MTRES1, ejects the unfinished nascent chain and peptidyl transfer RNA (tRNA), respectively, from stalled ribosomes. Recruitment of mitoribosome biogenesis factors to these quality control intermediates suggests additional roles for MTRES1 and MTRF during mitoribosome rescue.
  • 基因功能參考文獻：
    1. We demonstrate that the identical nonsense mutation in C12orf65 can result in different clinical features PMID: 25995486
    2. our study delineates the broad spectrum of C12orf65 defects and establishes a distinct genotype-phenotype correlation. The obligatory clinical triad is optic atrophy, peripheral neuropathy, and spastic paraparesis. PMID: 24424123
    3. The C12orf65 gene encodes a mitochondrial matrix protein that is critical for the release of newly synthesized proteins from mitochondrial ribosomes. PMID: 24284555
    4. Truncating mutations in C12ORF65 lead to a variable phenotype with intellectual disability, spastic paraplegia, and ophthalmoplegia in 2 patients. PMID: 24080142
    5. This work describes a mutation in the C12orf65 gene that causes recessive form of CMT6 and confirms the role of mitochondrial dysfunction in this complex axonal neuropathy. PMID: 24198383
    6. A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy. PMID: 23188110
    7. Knockdown of C12orf65 resulted in increased reactive oxidative species production and apoptosis, leading to inhibition of cell proliferation. PMID: 22821833
    8. C12orf65 might play a role in recycling abortive peptidyl-tRNA species, released from the ribosome during the elongation phase of translation. PMID: 20598281

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  • 相關疾病：
    Combined oxidative phosphorylation deficiency 7 (COXPD7); Spastic paraplegia 55, autosomal recessive (SPG55)
  • 亞細胞定位：
    Mitochondrion.
  • 蛋白家族：
    Prokaryotic/mitochondrial release factor family
  • 組織特異性：
    Expressed in all areas of the brain tested.
  • 數據庫鏈接：

    HGNC: 26784

    OMIM: 613541

    KEGG: hsa:91574

    STRING: 9606.ENSP00000253233

    UniGene: Hs.319128



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