製品の概要

  • 製品名
    Recombinant Human QDPR protein
  • タンパク質長
    Full length protein

製品の詳細

  • 由来
    Recombinant
  • 由来
    Escherichia coli
  • アミノ酸配列
    • アクセッション番号
    • 生物種
      Human
    • 分子量
      28 kDa including tags
    • 領域
      1 to 244
    • タグ
      His tag N-Terminus

特性

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.

  • アプリケーション

    SDS-PAGE

    Mass Spectrometry

  • 質量分析
    MALDI-TOF
  • 精製度
    > 90 % SDS-PAGE.
    ab113148 was purified using conventional chromatography techniques.
  • 製品の状態
    Liquid
  • 備考


  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

    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

関連情報

  • 別名
    • 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
  • 機能
    The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases.
  • 関連疾患
    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.
  • 配列類似性
    Belongs to the short-chain dehydrogenases/reductases (SDR) family.
  • Information by UniProt

画像

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

参考文献

ab113148 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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