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  4. Recombinant Human Deoxyguanosine kinase, mitochondrial (DGUOK)

Recombinant Human Deoxyguanosine kinase, mitochondrial (DGUOK)

In Stock
  • 中文名稱：
    人DGUOK重組蛋白
  • 貨號：
    CSB-EP621974HU
  • 規(guī)格：
    ￥1344
  • 圖片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

產(chǎn)品詳情

  • 純度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
    DGUOK
  • Uniprot No.：
  • 別名：
    DGUOK; DGK; Deoxyguanosine kinase; mitochondrial; dGK; EC 2.7.1.113
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Full Length of Mature Protein
  • 來源：
    E.coli
  • 分子量：
    44.0kDa
  • 表達區(qū)域：
    40-277
  • 氨基酸序列
    RLSIEGNIAVGKSTFVKLLTKTYPEWHVATEPVATWQNIQAAGTQKACTAQSLGNLLDMMYREPARWSYTFQTFSFLSRLKVQLEPFPEKLLQARKPVQIFERSVYSDRYIFAKNLFENGSLSDIEWHIYQDWHSFLLWEFASRITLHGFIYLQASPQVCLKRLYQRAREEEKGIELAYLEQLHGQHEAWLIHKTTKLHFEALMNIPVLVLDVNDDFSEEVTKQEDLMREVNTFVKNL
    Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
    If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
  • 蛋白標簽：
    N-terminal 6xHis-SUMO-tagged
  • 產(chǎn)品提供形式：
    Liquid or 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.
  • 緩沖液：
    If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
    Note: If you have any special requirement for the glycerol content, please remark when you place the order.
    If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
  • 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(zhì)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：
    3-7 business days
  • 注意事項：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

產(chǎn)品評價

靶點詳情

  • 功能：
    Phosphorylates deoxyguanosine and deoxyadenosine in the mitochondrial matrix, with the highest efficiency for deoxyguanosine. In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on DGUOK and TK2. Phosphorylates certain nucleoside analogs. Widely used as target of antiviral and chemotherapeutic agents.
  • 基因功能參考文獻：
    1. DGUOK deficiency and mutation is associated with mitochondrial DNA depletion syndromes. PMID: 28493820
    2. rare homozygous p.N46S mutation associated with idiopathic noncirrhotic portal hypertension PMID: 26874653
    3. The goals of this work are to characterize the DGUOK rat in terms of mitochondrial dysfunction and pathological outcome, and to evaluate EPR as a new and additional technique in an integrated characterization of mitochondrial disease . PMID: 26773591
    4. sequencing results showed that the patient was a compound heterozygote for c.679G>A and c.817delT in the DGUOK gene PMID: 27324545
    5. thymidine kinase 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells PMID: 24940680
    6. study expands the spectrum of disorders caused by mutations in DGUOK. PMID: 23043144
    7. Deoxyguanosine kinase gene mutations combined with impaired glucose homeostasis and iron overload features are associated with severe progressive liver failure. PMID: 21107780
    8. c.592-4_c.592-3delTT mutation causes exon skipping and is and responsible for the DGUOK deficiency PMID: 19900589
    9. Neurological symptoms appeared later and were mild, in agreement with the limited brain pathology. Molecular analysis of the dGK gene should be performed in infants with cirrhosis even in the absence of CNS involvement. PMID: 15150663
    10. Low level of mitochondrial deoxyguanosine kinase is the dominant factor in acquired resistance to 9-beta-D-arabinofuranosylguanine cytotoxicity PMID: 12054684
    11. A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. Homozygous nonsense mutation in exon 3 of DGUOK (313C-->T). PMID: 12210798
    12. This study identified 2 novel homozygous mutations, G352A and C269T, that lead to truncated proteins in the hepatocerebral form of mitochondrial DNA depletion syndrome. PMID: 15883261
    13. DGUOK activity may play a crucial role in the phenotype reversal PMID: 17073823
    14. DGUOK is required for mitochondrial DNA replication in resting cells and that small changes in expression of this enzyme may cause mitochondrial DNA depletion. PMID: 17490647
    15. 15 different mutations in the DGUOK gene from 9 kindreds, were identified. PMID: 18205204
    16. study reports the first founder DGUOK mutation (c.444-62C>A) in two North-African families with hepatocerebral syndrome and severe combined respiratory chain deficiency PMID: 19394258
    17. a viral infection can trigger fulminant liver failure in the context of a genetic predisposition associated with mutations in DGUOK PMID: 19502998

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  • 相關(guān)疾?。?/div>
    Mitochondrial DNA depletion syndrome 3 (MTDPS3); Portal hypertension, non-cirrhotic (NCPH); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4)
  • 亞細胞定位：
    Mitochondrion.
  • 蛋白家族：
    DCK/DGK family
  • 組織特異性：
    Ubiquitous. Highest expression in muscle, brain, liver and lymphoid tissues.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 2858

    OMIM: 251880

    KEGG: hsa:1716

    STRING: 9606.ENSP00000264093

    UniGene: Hs.469022