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Recombinant Human Alanine--tRNA ligase, mitochondrial (AARS2), partial

  • 中文名稱:
    Recombinant Human Alanine--tRNA ligase, mitochondrial(AARS2) ,partial
  • 貨號:
    CSB-YP711453HU
  • 規格:
  • 來源:
    Yeast
  • 其他:
  • 中文名稱:
    Recombinant Human Alanine--tRNA ligase, mitochondrial(AARS2) ,partial
  • 貨號:
    CSB-EP711453HU
  • 規格:
  • 來源:
    E.coli
  • 其他:
  • 中文名稱:
    Recombinant Human Alanine--tRNA ligase, mitochondrial(AARS2) ,partial
  • 貨號:
    CSB-EP711453HU-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:
    Recombinant Human Alanine--tRNA ligase, mitochondrial(AARS2) ,partial
  • 貨號:
    CSB-BP711453HU
  • 規格:
  • 來源:
    Baculovirus
  • 其他:
  • 中文名稱:
    Recombinant Human Alanine--tRNA ligase, mitochondrial(AARS2) ,partial
  • 貨號:
    CSB-MP711453HU
  • 規格:
  • 來源:
    Mammalian cell
  • 其他:

產品詳情

  • 純度:
    >85% (SDS-PAGE)
  • 基因名:
  • Uniprot No.:
  • 別名:
    AARS2; AARSL; KIAA1270; Alanine--tRNA ligase; mitochondrial; EC 6.1.1.7; Alanyl-tRNA synthetase; AlaRS
  • 種屬:
    Homo sapiens (Human)
  • 蛋白長度:
    Partial
  • 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:
    Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain.
  • 基因功能參考文獻:
    1. Two AARS2 variants, (c.2872C > T) and (c.1774C > T), were identified in a child with cardiomyopathy with early-onset brain disease. PMID: 29440775
    2. Three patients with ovarioleukodystrophy, carrying AARS2 compound heterozygous mutations have been found. PMID: 29749055
    3. Missense variants in the AARS2 gene are the likely cause of the retinopathy and optic atrophy in this patient. This finding expands the phenotypic spectrum of the AARS2 gene. PMID: 28820624
    4. Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia. PMID: 27749956
    5. This paper documented a new, nonsense AARS2 gene mutation (c.578T>G, p.Leu193*) and a known missense mutation (c.595C>T, p.Arg199Cys) associated with leukoencephalopathy in a male patient. PMID: 27734837
    6. we describe a Japanese woman with novel compound heterozygous mutations in AARS2, the first report of leukodystrophy caused by AARS2 mutations in Asia. PMID: 27251004
    7. A new phenotype caused by AARS2 mutations is characterized by leukoencephalopathy and ovarian failure in female patients, indicating that the phenotypic spectrum associated with AARS2 variants is much wider than previously reported. PMID: 24808023
    8. Mutations in AARS2 found in lethal mitochondrial myopathy PMID: 22277967

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  • 相關疾病:
    Combined oxidative phosphorylation deficiency 8 (COXPD8); Leukoencephalopathy, progressive, with ovarian failure (LKENP)
  • 亞細胞定位:
    Mitochondrion.
  • 蛋白家族:
    Class-II aminoacyl-tRNA synthetase family
  • 數據庫鏈接:

    HGNC: 21022

    OMIM: 612035

    KEGG: hsa:57505

    STRING: 9606.ENSP00000244571

    UniGene: Hs.158381



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