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  4. RARS2 Antibody, HRP conjugated

RARS2 Antibody, HRP conjugated

说明书
  • 中文名称：
    RARS2兔多克隆抗体, HRP偶联
  • 货号：
    CSB-PA732918LB01HU
  • 规格：
    ￥880
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) RARS2 Polyclonal antibody
  • Uniprot No.：
    Q5T160
  • 基因名：
    RARS2
  • 别名：
    Probable arginine--tRNA ligase, mitochondrial (EC 6.1.1.19) (Arginyl-tRNA synthetase) (ArgRS), RARS2, RARSL
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Probable arginine--tRNA ligase, mitochondrial protein (230-578aa)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    HRP
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA
  • Protocols：
    ELISA Protocol
  • 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.
  • 用途：
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

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靶点详情

  • 基因功能参考文献：
    1. Characteristic neuroradiological abnormalities of PCH6 such as vermis and cerebellar hypoplasia and progressive pontocerebellar atrophy may be missing in patients with RARS2 mutations PMID: 27769281
    2. RARS2 gene mutations can cause a metabolic neurodegenerative disease manifesting primarily as early onset epileptic encephalopathies with post-natal microcephaly, without pontocerebellar hypoplasia. PMID: 26970947
    3. Mutations in the RARS2 promoter are likely to represent a new causal mechanism of pontocerebellar hypoplasia. PMID: 25809939
    4. Molecular investigations of RARS2 disclosed the c.25A>G/p.I9V and the c.1586+3A>T in family A. PMID: 22569581
    5. mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2, may have a role in pontocerebellar hypoplasia type 6 [case report] PMID: 22086604

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  • 相关疾病：
    Pontocerebellar hypoplasia 6 (PCH6)
  • 亚细胞定位：
    Mitochondrion matrix.
  • 蛋白家族：
    Class-I aminoacyl-tRNA synthetase family
  • 数据库链接：

    HGNC: 21406

    OMIM: 611523

    KEGG: hsa:57038

    STRING: 9606.ENSP00000358549

    UniGene: Hs.485910

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