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  4. TIMM8A Antibody

TIMM8A Antibody

  • 中文名稱：
    TIMM8A兔多克隆抗體
  • 貨號：
    CSB-PA023557GA01HU
  • 規格：
    ￥3,900
  • 其他：

產品詳情

  • Uniprot No.：
  • 基因名：
    TIMM8A
  • 別名：
    DDP 1 antibody; DDP antibody; DDP1 antibody; Deafness dystonia protein 1 antibody; Deafness/dystonia peptide antibody; DFN 1 antibody; DFN1 antibody; MGC12262 antibody; Mitochondrial import inner membrane translocase subunit Tim8 A antibody; MTS antibody; TIM 8A antibody; TIM8 antibody; TIM8A antibody; TIM8A_HUMAN antibody; TIMM 8A antibody; timm8a antibody; Translocase of inner mitochondrial membrane 8 homolog A antibody; X linked deafness dystonia protein antibody; X-linked deafness dystonia protein antibody
  • 宿主：
    Rabbit
  • 反應種屬：
    Human,Mouse,Rat
  • 免疫原：
    Human TIMM8A
  • 免疫原種屬：
    Homo sapiens (Human)
  • 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：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產品提供形式：
    Liquid
  • 應用范圍：
    ELISA,WB
  • 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：
    Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins. Probably necessary for normal neurologic development.
  • 基因功能參考文獻：
    1. The results of this study demonistrated that the syndrome of deafness-dystonia is cause by mutation of Timm8a. PMID: 23418071
    2. knockdown of the TIMM8A gene by RNA interference did not show an influence on the oxygen respiration rate and the mitochondrial membrane potentia PMID: 21984432
    3. Interaction of TIMM8a with the signal transduction adaptor molecule STAM1. PMID: 12745081
    4. Intronic mutations in the DDP1 gene can also cause X-linked dystonia-deafness syndrome. PMID: 15710860
    5. Bax/Bak-dependent release of DDP/TIMM8a promotes Drp1-mediated mitochondrial fission and mitoptosis during programmed cell death. PMID: 16332536
    6. Mutation in TIMM8a is associated with deafness-dystonia (Mohr-Tranebjaerg) syndrome PMID: 16411215
    7. A sporadic 42-year-old man with MTS presenting with postlingual deafness, adult-onset progressive dystonia with marked arm tremor, mild spasticity of the legs, and visual disturbance due to a novel mutation in the DDP1 gene. PMID: 17534980
    8. mRNA expression demonstrate increased TIMM8A mRNA levels in cultured fibroblasts from a patient with Mohr-Tranebjaerg Syndrome. PMID: 17999202

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  • 相關疾病：
    Mohr-Tranebjaerg syndrome (MTS)
  • 亞細胞定位：
    Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side.
  • 蛋白家族：
    Small Tim family
  • 組織特異性：
    Highly expressed in fetal and adult brain, followed by fetal lung, liver and kidney. Also expressed in heart, placenta, lung, liver, kidney, pancreas, skeletal muscle and heart.
  • 數據庫鏈接：

    HGNC: 11817

    OMIM: 300356

    KEGG: hsa:1678

    STRING: 9606.ENSP00000361993

    UniGene: Hs.447877



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