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AARS2 Antibody

  • 货号：
    CSB-PA711453ESR2HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human liver cancer using CSB-PA711453ESR2HU at dilution of 1:100
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) AARS2 Polyclonal antibody
  • Uniprot No.：
    Q5JTZ9
  • 基因名：
    AARS2
  • 别名：
    AARS2 antibody; AARSL antibody; KIAA1270 antibody; Alanine--tRNA ligase antibody; mitochondrial antibody; EC 6.1.1.7 antibody; Alanyl-tRNA synthetase antibody; AlaRS antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Alanine--tRNA ligase, mitochondrial protein (841-985AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 克隆类型：
    Polyclonal
  • 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, pH7.3.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IHC
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:20-1:200
  • 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

  • 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.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Combined oxidative phosphorylation deficiency 8 (COXPD8); Leukoencephalopathy, progressive, with ovarian failure (LKENP)
  • 亚细胞定位：
    Mitochondrion.
  • 蛋白家族：
    Class-II aminoacyl-tRNA synthetase family
  • 数据库链接：

    HGNC: 21022

    OMIM: 612035

    KEGG: hsa:57505

    STRING: 9606.ENSP00000244571

    UniGene: Hs.158381