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DARS2 Antibody

  • 货号：
    CSB-PA006506GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q6PI48
  • 基因名：
    DARS2
  • 别名：
    DARS2 antibody; Aspartate--tRNA ligase antibody; mitochondrial antibody; EC 6.1.1.12 antibody; Aspartyl-tRNA synthetase antibody; AspRS antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human DARS2
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 基因功能参考文献：
    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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  • 相关疾病：
    Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
  • 亚细胞定位：
    Mitochondrion matrix.
  • 蛋白家族：
    Class-II aminoacyl-tRNA synthetase family, Type 1 subfamily
  • 数据库链接：

    HGNC: 25538

    OMIM: 610956

    KEGG: hsa:55157

    STRING: 9606.ENSP00000355086

    UniGene: Hs.647707