Overview

  • Product nameRecombinant Human QDPR protein
  • Protein lengthFull length protein

Description

  • NatureRecombinant
  • SourceEscherichia coli
  • Amino Acid Sequence
    • AccessionP09417
    • SpeciesHuman
    • Molecular weight28 kDa including tags
    • Amino acids1 to 244
    • TagsHis tag N-Terminus

Specifications

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.

  • Applications

    SDS-PAGE

    Mass Spectrometry

  • Mass spectrometry
    MALDI-TOF
  • Purity> 90 % SDS-PAGE.
    ab113148 was purified using conventional chromatography techniques.
  • FormLiquid
  • Additional notes


  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    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

General Info

  • Alternative names
    • 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
  • FunctionThe product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases.
  • Involvement in diseaseDefects 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.
  • Sequence similaritiesBelongs to the short-chain dehydrogenases/reductases (SDR) family.
  • Information by UniProt

Recombinant Human QDPR protein images

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

References for Recombinant Human QDPR protein (ab113148)

ab113148 has not yet been referenced specifically in any publications.

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