Quinoid dihydropteridine reductase; DHPR; FLJ42391; PKU2; SDR33C1

For Research Use Only. Not for use in diagnostic procedures.

E Coli

>=90%

1 mg/ml solution in 20 mM Tris-HCl buffer (pH 8.0) containing 10% glycerol and 2 mM DTT
Appearance: Liquid

1 mg/ml (lot specific)

At -20 degree C
Shelf Life: 12 months

Small volumes of QDPR recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Background: QDPR is a member of the short-chain dehydrogenases/reductase (SDR) family of enzymes. Functioning as a homodimer, QDPR plays an important role in the recycling of tetrahydrobiopterin (BH4), an essential cofactor for the hydroxylation of the aromatic amino acids (tryptophan, tyrosine and phenylalanine). More specifically, QDPR catalyzes the regeneration of BH4 from quinonoid dihydrobiopterin (qBH2), the product generated from the hydroxylation reactions. Mutations in the gene encoding QDPR can lead to phenylketonuria II. Recombinant human QDPR protein, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques.

Proteins and Enzymes; Proteins and Enzymes (A-Z)

SDS-PAGE

28.2 kDa (267 aa, 1-244 aa + His Tag)

quinoid dihydropteridine reductase

dihydropteridine reductase

Dihydropteridine reductase

DHPR; SDR33C1??[Similar Products]

DHPR_HUMAN

This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]

QDPR: The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases. Defects in QDPR are the cause of BH4-deficient hyperphenylalaninemia type C (HPABH4C); 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. Belongs to the short-chain dehydrogenases/reductases (SDR) family.

Protein type: Oxidoreductase; EC 1.5.1.34; Cofactor and Vitamin Metabolism - folate biosynthesis

Chromosomal Location of Human Ortholog: 4p15.31

Cellular Component: neuron projection; mitochondrion; cytoplasm; cytosol

Molecular Function: protein homodimerization activity; electron carrier activity; 6,7-dihydropteridine reductase activity

Biological Process: amino acid metabolic process; tetrahydrobiopterin biosynthetic process; L-phenylalanine catabolic process; response to glucagon stimulus; dihydrobiopterin metabolic process; response to lead ion; liver development; response to aluminum ion

Disease: Hyperphenylalaninemia, Bh4-deficient, C

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