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Recombinant Human Lipoyl synthase, mitochondrial (LIAS)

In Stock
  • 中文名稱:
    人LIAS重組蛋白
  • 貨號:
    CSB-EP012927HUc7
  • 規格:
    ¥1344
  • 圖片:
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他:

產品詳情

  • 純度:
    Greater than 85% as determined by SDS-PAGE.
  • 生物活性:
    Not Test
  • 基因名:
    LIAS
  • Uniprot No.:
  • 別名:
    (Lipoate synthase)(LS)(Lip-syn)(Lipoic acid synthase)
  • 種屬:
    Homo sapiens (Human)
  • 蛋白長度:
    Full Length of Mature Protein
  • 來源:
    E.coli
  • 分子量:
    45.8 kDa
  • 表達區域:
    28-372aa
  • 氨基酸序列
    LSSLPDKKKELLQNGPDLQDFVSGDLADRSTWDEYKGNLKRQKGERLRLPPWLKTEIPMGKNYNKLKNTLRNLNLHTVCEEARCPNIGECWGGGEYATATATIMLMGDTCTRGCRFCSVKTARNPPPLDASEPYNTAKAIAEWGLDYVVLTSVDRDDMPDGGAEHIAKTVSYLKERNPKILVECLTPDFRGDLKAIEKVALSGLDVYAHNVETVPELQSKVRDPRANFDQSLRVLKHAKKVQPDVISKTSIMLGLGENDEQVYATMKALREADVDCLTLGQYMQPTRRHLKVEEYITPEKFKYWEKVGNELGFHYTASGPLVRSSYKAGEFFLKNLVAKRKTKDL
    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:
    C-terminal 6xHis-tagged
  • 產品提供形式:
    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. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
  • 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:
    3-7 business days
  • 注意事項:
    Repeated freezing and thawing is not recommended. Store working aliquots at 4℃ for up to one week.
  • Datasheet & COA:
    Please contact us to get it.

產品評價

靶點詳情

  • 功能:
    Catalyzes the radical-mediated insertion of two sulfur atoms into the C-6 and C-8 positions of the octanoyl moiety bound to the lipoyl domains of lipoate-dependent enzymes, thereby converting the octanoylated domains into lipoylated derivatives.
  • 基因功能參考文獻:
    1. this study used a bioinformatics approach to predict its structure. . A homology model for LIAS protein was generated using X-ray crystallographic structure of Thermosynechococcus elogatsu. The active site of LIAS protein was mapped and docked with S-Adenosyl Methionine PMID: 27717843
    2. oxoglutarate dehydrogenase (OGDH) and lipoic acid synthase (LIAS), which when mutated stabilize HIF1alpha in a non-hydroxylated form. PMID: 27923773
    3. heterozygous mutations (c.738-2A>G and c.929T>C (p.Met310Thr)) in LIAS. PMID: 26108146
    4. Patients with LIAS nonketotic hyperglycinemia varied in disease severity and cortical involvement. PMID: 24334290
    5. We identified the homozygous mutation c.746G>A (p.Arg249His) in LIAS in an individual with neonatal-onset epilepsy, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine PMID: 22152680
    6. Lipoic acid synthetase deficiency results in an overall disturbance in the antioxidant defense network, leading to increased inflammation, insulin resistance, and mitochondrial dysfunction. PMID: 19074983

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  • 相關疾?。?/div>
    Hyperglycinemia, lactic acidosis, and seizures (HGCLAS)
  • 亞細胞定位:
    Mitochondrion.
  • 蛋白家族:
    Radical SAM superfamily, Lipoyl synthase family
  • 數據庫鏈接:

    HGNC: 16429

    OMIM: 607031

    KEGG: hsa:11019

    STRING: 9606.ENSP00000261434

    UniGene: Hs.550502



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