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Recombinant Human Mitochondrial import inner membrane translocase subunit Tim8 A (TIMM8A)

  • 中文名稱:
    人TIMM8A重組蛋白
  • 貨號:
    CSB-YP023557HU
  • 規格:
  • 來源:
    Yeast
  • 其他:
  • 中文名稱:
    人TIMM8A重組蛋白
  • 貨號:
    CSB-EP023557HU-B
  • 規格:
  • 來源:
    E.coli
  • 共軛:
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他:
  • 中文名稱:
    人TIMM8A重組蛋白
  • 貨號:
    CSB-BP023557HU
  • 規格:
  • 來源:
    Baculovirus
  • 其他:
  • 中文名稱:
    人TIMM8A重組蛋白
  • 貨號:
    CSB-MP023557HU
  • 規格:
  • 來源:
    Mammalian cell
  • 其他:

產品詳情

  • 純度:
    >85% (SDS-PAGE)
  • 基因名:
    TIMM8A
  • Uniprot No.:
  • 別名:
    DDP 1; DDP; DDP1; Deafness dystonia protein 1; Deafness/dystonia peptide; DFN 1; DFN1; MGC12262; Mitochondrial import inner membrane translocase subunit Tim8 A; MTS; TIM 8A; TIM8; TIM8A; TIM8A_HUMAN; TIMM 8A; timm8a; Translocase of inner mitochondrial membrane 8 homolog A; X linked deafness dystonia protein; X-linked deafness dystonia protein
  • 種屬:
    Homo sapiens (Human)
  • 蛋白長度:
    Full length protein
  • 表達區域:
    1-97
  • 氨基酸序列
    MDSSSSSSAA GLGAVDPQLQ HFIEVETQKQ RFQQLVHQMT ELCWEKCMDK PGPKLDSRAE ACFVNCVERF IDTSQFILNR LEQTQKSKPV FSESLSD
  • 蛋白標簽:
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產品提供形式:
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 復溶:
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲存條件:
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期:
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期:
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項:
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet :
    Please contact us to get it.

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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