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AARS Antibody, Biotin conjugated

  • 中文名稱:
    AARS兔多克隆抗體, Biotin偶聯(lián)
  • 貨號:
    CSB-PA001023LD01HU
  • 規(guī)格:
    ¥880
  • 其他:

產(chǎn)品詳情

  • 產(chǎn)品名稱:
    Rabbit anti-Homo sapiens (Human) AARS Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    AARS
  • 別名:
    AARS antibody; AI316495 antibody; Alanine tRNA ligase 1, cytoplasmic antibody; Alanine tRNA ligase antibody; Alanine tRNA ligase cytoplasmic antibody; Alanine--tRNA ligase antibody; Alanyl tRNA synthetase antibody; Alanyl tRNA synthetase cytoplasmic antibody; Alanyl-tRNA synthetase antibody; AlaRS antibody; C76919 antibody; CMT2N antibody; cytoplasmic antibody; EC 6.1.1.7 antibody; MGC37368 antibody; Renal carcinoma antigen NY REN 42 antibody; Renal carcinoma antigen NY-REN-42 antibody; SYAC_HUMAN antibody
  • 宿主:
    Rabbit
  • 反應(yīng)種屬:
    Human
  • 免疫原:
    Recombinant Human Alanine--tRNA ligase, cytoplasmic protein (164-321AA)
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標(biāo)記方式:
    Biotin
  • 克隆類型:
    Polyclonal
  • 抗體亞型:
    IgG
  • 純化方式:
    >95%, Protein G purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 產(chǎn)品提供形式:
    Liquid
  • 應(yīng)用范圍:
    ELISA
  • 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(diǎn)詳情

  • 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.
  • 基因功能參考文獻(xiàn):
    1. A large sequence divergence of the C-terminal domain (C-Ala) reshaped C-Ala in a way that changed the global architecture of alanyl-tRNA synthetase (AlaRS). This reshaping removed the role of C-Ala in prokaryotes for docking tRNA and instead repurposed it to form a dimer interface presenting a DNA-binding groove. PMID: 27911835
    2. Number of missense mutations in AARS expand the clinical spectrum and provide pheno-genotypic correlations in AARS-related neuropathies. PMID: 26032230
    3. A novel mutation in alanyl-tRNA synthetase causes a mild myeloneuropathy, a novel phenotype for patients with mutations in one of the tRNA synthetase genes. PMID: 25904691
    4. Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. PMID: 25817015
    5. the pathological consequences of diminished tRNA synthetase editing activity, and thus translational infidelity, are dependent on the cell type and the extent of editing disruption PMID: 25422440
    6. in a family with distal hereditary motor neuropathy (dHMN), all 4 affected family members had a heterozygous missense mutation c.2677G>A (p.D893N) of (AARS), not found in the 4 unaffected members and control subjects; conclude AARS mutation caused dHMN in a Chinese family; AARS mutations result in not only a CMT phenotype but also a dHMN phenotype PMID: 22573628
    7. Methylation-mediated deamination of a CpG dinucleotide gives rise to the recurrent p.Arg329His alanyl-tRNA synthetase mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). PMID: 22009580
    8. We show here that mutations in AARS2 cause perinatal or infantile cardiomyopathy with near-total combined mitochondrial respiratory chain deficiency in the heart. PMID: 21549344
    9. cytoplasmic Alanyl-tRNA synthetase may have a role in dominant axonal Charcot-Marie-Tooth disease, as shown by its mutation in a major determinant for binding and aminoacylation PMID: 20045102

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  • 相關(guān)疾病:
    Charcot-Marie-Tooth disease 2N (CMT2N); Epileptic encephalopathy, early infantile, 29 (EIEE29)
  • 亞細(xì)胞定位:
    Cytoplasm.
  • 蛋白家族:
    Class-II aminoacyl-tRNA synthetase family
  • 數(shù)據(jù)庫鏈接:

    HGNC: 20

    OMIM: 601065

    KEGG: hsa:16

    STRING: 9606.ENSP00000261772

    UniGene: Hs.315137



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