Recombinant人QDPR protein (ab113148)

概述

  • 产品名称Recombinant人QDPR protein
  • 蛋白长度Full length protein

描述

  • 性质Recombinant
  • 来源Escherichia coli
  • 氨基酸序列
    • AccessionP09417
    • 种属Human
    • 分子量28 kDa including tags
    • 氨基酸1 to 244
    • 标签His tag N-Terminus

技术指标

Our Abpromise guarantee covers the use of ab113148 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • 应用

    SDS-PAGE

    Mass Spectrometry

  • 质谱法
    MALDI-TOF
  • 纯度> 90 % SDS-PAGE.
    ab113148 was purified using conventional chromatography techniques.
  • 形式Liquid
  • 补充说明


  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.

    pH: 8.00
    Constituents: 10% Glycerol, 0.32% Tris HCl, 0.04% DTT

常规信息

  • 别名
    • 6,7 dihydropteridine reductase
    • DHPR
    • DHPR_HUMAN
    • Dihydropteridine reductase
    • HDHPR
    • HPR
    • PKU2
    • Qdpr
    • Quinoid dihydropteridine reductase
    • SDR33C1
    • Short chain dehydrogenase/reductase family 33C, member 1
    see all
  • 功能The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases.
  • 疾病相关Defects in QDPR are the cause of BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]; also called dihydropteridine reductase deficiency (DHPR deficiency) or hyperphenylalaninemia tetrahydrobiopterin-deficient due to DHPR deficiency or quinoid dihydropteridine reductase deficiency (QDPR deficiency). HPABH4C is a rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly. These signs are attributable to depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and tyrosine hydroxylases that use BH-4 as cofactor. These patients do not respond to phenylalanine-restricted diet. HPABH4C is lethal if untreated.
  • 序列相似性Belongs to the short-chain dehydrogenases/reductases (SDR) family.
  • Information by UniProt

Recombinant Human QDPR protein 图像

  • 15% SDS-PAGE showing ab113148 (3 µg) at approximately 28.2 kDa.

Recombinant Human QDPR protein (ab113148)参考文献

ab113148 has not yet been referenced specifically in any publications.

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