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
    • Accession
    • 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.

Product Wall

There are currently no Abreviews or Questions for ab113148.
Please use the links above to contact us or submit feedback about this product.

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

注册