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WARS2 Antibody

  • 中文名稱：
    WARS2兔多克隆抗體
  • 貨號：
    CSB-PA025966GA01HU
  • 規(guī)格：
    ￥3,900
  • 其他：

產(chǎn)品詳情

  • Uniprot No.：
  • 基因名：
    WARS2
  • 別名：
    WARS2 antibody; Tryptophan--tRNA ligase antibody; mitochondrial antibody; EC 6.1.1.2; antibody; Mt)TrpRS antibody; Tryptophanyl-tRNA synthetase antibody; TrpRS antibody
  • 宿主：
    Rabbit
  • 反應種屬：
    Human,Mouse,Rat
  • 免疫原：
    Human WARS2
  • 免疫原種屬：
    Homo sapiens (Human)
  • 抗體亞型：
    IgG
  • 純化方式：
    Antigen Affinity purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產(chǎn)品提供形式：
    Liquid
  • 應用范圍：
    ELISA,WB
  • Protocols：
  • 儲存條件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期：
    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.

產(chǎn)品評價

靶點詳情

  • 功能：
    Mitochondrial aminoacyl-tRNA synthetase that activate and transfer the amino acids to their corresponding tRNAs during the translation of mitochondrial genes and protein synthesis.
  • 基因功能參考文獻：
    1. An alternative conformation of human TrpRS suggests a role of zinc in activating non-enzymatic function. PMID: 28910573
    2. The data demonstrate a pro-angiogenic function for Wars2 both within and outside the heart. PMID: 27389904
    3. This confidently implicates that mutations in WARS2 cause mitochondrial disease with a broad spectrum of clinical presentation. PMID: 28905505
    4. we found a compound heterozygous genotype of the mitochondrial tryptophanyl-tRNA synthetase (WARS2) gene, comprising a nonsense mutation (c.325delA, p.Ser109Alafs*15), which very likely entails nonsense-mediated mRNA decay and a missense mutation PMID: 28236339
    5. Here we substantially extend and consolidate the symptomatology of WARS2 by presenting a patient with severe infantile-onset leukoencephalopathy, profound intellectual disability, spastic quadriplegia, epilepsy, microcephaly, short stature, failure to thrive, cerebral atrophy, and periventricular white matter abnormalities PMID: 28650581
    6. first genome-wide scan for selection in Inuit from Greenland. A region, with a deeply divergent haplotype that is closely related to the sequence in the Denisovan genome contains two genes, WARS2 and TBX15. our study suggests a complex multi-factorial regulation of TBX15 and WARS2. We show that the introgressed region is associated with regional changes in methylation and expression levels PMID: 28007980
    7. tandem promoters provide a dual system to regulate expression and alternative splicing of human TrpRS in vivo PMID: 14757836
    8. Mutations located at the appended beta1-beta2 hairpin and the AIDQ sequence of human TrpRS switch this enzyme to a tRNA-dependent mode in the tryptophan activation step. PMID: 17726052

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  • 相關疾?。?/div>
    Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS)
  • 亞細胞定位：
    Mitochondrion matrix.
  • 蛋白家族：
    Class-I aminoacyl-tRNA synthetase family
  • 組織特異性：
    Brain.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 12730

    OMIM: 604733

    KEGG: hsa:10352

    STRING: 9606.ENSP00000235521

    UniGene: Hs.523506