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  4. Recombinant Human Aspartate--tRNA ligase, mitochondrial (DARS2)

Recombinant Human Aspartate--tRNA ligase, mitochondrial (DARS2)

  • 中文名稱：
    Recombinant Human Aspartate--tRNA ligase, mitochondrial(DARS2)
  • 貨號(hào)：
    CSB-YP747490HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    Recombinant Human Aspartate--tRNA ligase, mitochondrial(DARS2)
  • 貨號(hào)：
    CSB-EP747490HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    Recombinant Human Aspartate--tRNA ligase, mitochondrial(DARS2)
  • 貨號(hào)：
    CSB-EP747490HU-B
  • 規(guī)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 Aspartate--tRNA ligase, mitochondrial(DARS2)
  • 貨號(hào)：
    CSB-BP747490HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    Recombinant Human Aspartate--tRNA ligase, mitochondrial(DARS2)
  • 貨號(hào)：
    CSB-MP747490HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    DARS2
  • Uniprot No.：
  • 別名：
    DARS2; Aspartate--tRNA ligase; mitochondrial; EC 6.1.1.12; Aspartyl-tRNA synthetase; AspRS
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長(zhǎng)度：
    Full Length of Mature Protein
  • 表達(dá)區(qū)域：
    48-645
  • 氨基酸序列
    VVR TNTCGELRSS HLGQEVTLCG WIQYRRQNTF LVLRDFDGLV QVIIPQDESA ASVKKILCEA PVESVVQVSG TVISRPAGQE NPKMPTGEIE IKVKTAELLN ACKKLPFEIK NFVKKTEALR LQYRYLDLRS FQMQYNLRLR SQMVMKMREY LCNLHGFVDI ETPTLFKRTP GGAKEFLVPS REPGKFYSLP QSPQQFKQLL MVGGLDRYFQ VARCYRDEGS RPDRQPEFTQ IDIEMSFVDQ TGIQSLIEGL LQYSWPNDKD PVVVPFPTMT FAEVLATYGT DKPDTRFGMK IIDISDVFRN TEIGFLQDAL SKPHGTVKAI CIPEGAKYLK RKDIESIRNF AADHFNQEIL PVFLNANRNW NSPVANFIME SQRLELIRLM ETQEEDVVLL TAGEHNKACS LLGKLRLECA DLLETRGVVL RDPTLFSFLW VVDFPLFLPK EENPRELESA HHPFTAPHPS DIHLLYTEPK KARSQHYDLV LNGNEIGGGS IRIHNAELQR YILATLLKED VKMLSHLLQA LDYGAPPHGG IALGLDRLIC LVTGSPSIRD VIAFPKSFRG HDLMSNTPDS VPPEELKPYH IRVSKPTDSK AERAH
  • 蛋白標(biāo)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(chǎn)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(fù)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(chǔ)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：
    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(xiàng)：
    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(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 基因功能參考文獻(xiàn)：
    1. Whole exome sequencing of the proband identified two compound heterozygous variants (NM_018122.4:c.1762C > G and c.563G > A) in DARS2 PMID: 30352563
    2. Results show that DARS2 is strongly upregulated in hepatocellular carcinoma (HCC) and is associated with HCC progression. DARS2 promotes HCC tumorigenesis by accelerating cell cycle progression and attenuating cell apoptosis. PMID: 29052520
    3. Mutations with mild effects on solubility occur in patients as allelic combinations whereas those with strong effects on solubility or on aminoacylation are necessarily associated with a partially functional allele. PMID: 26620921
    4. This study identified DARS2-associated leukoencephalopathy with hypomyelination with brainstem and spinal cord involvement and leg spasticity. PMID: 25527264
    5. 60 different DARS2 mutations were identified in 78 patients with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, 13 of which have not been reported before PMID: 24566671
    6. Cognitive impairment seems to be common among patients with leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate and DARS2 mutations PMID: 23652419
    7. A comparison of biophysical properties of human mitochondrial aspartyl-tRNA synthetase, HsaDRS2, with them to those of a bacterial (E. coli) homolog, EcoDRS. PMID: 23275545
    8. Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse way PMID: 23216004
    9. We describe two new cases of Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate with a novel pathogenic mutation in the DARS2 gene PMID: 21792730
    10. Case demonstrates that DARS2 mutation homozygosity is not lethal, as suggested earlier, but compatible with a rather benign disease course. PMID: 21749991
    11. Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA. PMID: 22023289
    12. A novel homozygous mutation of DARS2 may cause a severe LBSL (Leukoencephalopathy with brain stem and spinal cord involvement with lactate elevation) variant. PMID: 21815884
    13. This report describes two novel heterozygote composite mutations in the DARS2 gene PMID: 20878420
    14. DARS2 mutations cause childhood-to-adolescence onset leucoencephalopathy, but they do not seem to be associated with multiple sclerosis. PMID: 19592391
    15. The gene for mitochondrial aspartyl-tRNA synthetase is described and the initial characterization of the enzyme is reported. Genes for the remaining missing human synthetases have also been found with the exception of glutaminyl-tRNA synthetase. PMID: 15779907
    16. Mutations in DARS2, which encodes mitochondrial aspartyl-tRNA synthetase, in affected individuals with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. PMID: 17384640

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  • 相關(guān)疾病：
    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
  • 亞細(xì)胞定位：
    Mitochondrion matrix.
  • 蛋白家族：
    Class-II aminoacyl-tRNA synthetase family, Type 1 subfamily
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 25538

    OMIM: 610956

    KEGG: hsa:55157

    STRING: 9606.ENSP00000355086

    UniGene: Hs.647707



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