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PNPO Antibody, Biotin conjugated

  • 中文名稱:
    PNPO兔多克隆抗體, Biotin偶聯
  • 貨號:
    CSB-PA885740LD01HU
  • 規(guī)格:
    ¥880
  • 其他:

產品詳情

  • 產品名稱:
    Rabbit anti-Homo sapiens (Human) PNPO Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    PNPO
  • 別名:
    EC 1.4.3.5 antibody; FLJ10535 antibody; PDXPO antibody; PNPO antibody; PNPO_HUMAN antibody; Pyridoxal 5' phosphate synthase antibody; pyridoxamine 5' phosphate oxidase antibody; Pyridoxamine phosphate oxidase antibody; Pyridoxamine-phosphate oxidase antibody; pyridoxine 5' phosphate oxidase antibody; Pyridoxine-5'-phosphate oxidase antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Recombinant Human Pyridoxine-5'-phosphate oxidase protein (114-207AA)
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    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
  • 產品提供形式:
    Liquid
  • 應用范圍:
    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.

產品評價

靶點詳情

  • 功能:
    Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP).
  • 基因功能參考文獻:
    1. TGF-beta1-mediated PNPO expression was at least in part through the upregulation of miR-143-3p in epithelial ovarian cancer. PMID: 29238081
    2. data support a pathogenic role of the c.347G>A (p.Arg116Gln) mutation in PNPO deficiency; the later onset of symptoms and the milder epilepsy phenotype of these expand the disease phenotype PMID: 28818555
    3. Exome sequencing revealed that the patient was compound heterozygous for pathogenic mutations [c.546+1G>A (IVS5+1 G>A) and c.620delG (p.G207VfsX215)] in the PNPO gene. PMID: 26535729
    4. One sequence variant, R116Q, a single nucleotide polymorphism that has been reported in the general population, was found to have an effect on PNPO activity. PMID: 24645144
    5. Challenge to the paradigm of exclusive PLP responsiveness in patients with pyridoxal 5'-phosphate oxidase deficiency and underlines the importance of consecutive testing of pyridoxine and PLP in neonates with antiepileptic drug-resistant seizures. PMID: 24658933
    6. Generalized epilepsies implicates susceptibility genes: CHRM3 at 1q43, VRK2 at 2p16.1, ZEB2 at 2q22.3, SCN1A at 2q24.3 and PNPO at 17q21.32. PMID: 22949513
    7. provide evidence that a single arginine residue of the C terminus of pyridoxal 5'-phosphate synthase is responsible for coordinating co-operativity in this elaborate protein machinery PMID: 21283685
    8. Results describe a combined computer and biochemical approach to characterize human pyridoxine 5'-phosphate oxidase (PNPO). PMID: 15182361
    9. several mutations appear to cause epilepsy PMID: 15772097
    10. We examined 8 single nucleotide polymorphisms (SNPs) in PNPO and its 5'-flanking regions in 359 schizophrenia patients and 582 control subjects. PMID: 17851041
    11. Sequencing of the PNPO gene revealed a novel homozygous nonsense mutationt in exon 3 in the neonatal and infantile seizure. PMID: 18485777
    12. PNP oxidase R229W mutation identified in patients with neonatal epileptic encephalopathy sgnificantly affect the catalytic efficiency of the enzyme. PMID: 19759001

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  • 相關疾病:
    Pyridoxine-5'-phosphate oxidase deficiency (PNPOD)
  • 蛋白家族:
    Pyridoxamine 5'-phosphate oxidase family
  • 數據庫鏈接:

    HGNC: 30260

    OMIM: 603287

    KEGG: hsa:55163

    STRING: 9606.ENSP00000225573

    UniGene: Hs.631742



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