Description

  • Product name

    Recombinant Human QDPR/DHPR protein
  • Purity

    > 90 % SDS-PAGE.
    ab113148 was purified using conventional chromatography techniques.
  • Expression system

    Escherichia coli
  • Accession

  • Protein length

    Full length protein
  • Animal free

    No
  • Nature

    Recombinant
    • Species

      Human
    • Predicted molecular weight

      28 kDa including tags
    • Amino acids

      1 to 244
    • Tags

      His 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
  • Form

    Liquid
  • Additional notes


    Previously labelled as QDPR. 

  • 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
  • Function

    The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases.
  • Involvement in disease

    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.
  • Sequence similarities

    Belongs to the short-chain dehydrogenases/reductases (SDR) family.
  • Information by UniProt

Images

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

References

ab113148 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

There are currently no Customer reviews 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. NOT FOR USE IN DIAGNOSTIC PROCEDURES"
For licensing inquiries, please contact partnerships@abcam.com

Sign up