QDPR active protein

QDPR, human recombinant

Cat. Num. AAA844809

• Gene Names: QDPR; DHPR; PKU2; SDR33C1
• Applications: SDS-Page
• Purity: >=90%
• Synonyms: QDPR; human recombinant; Quinoid dihydropteridine reductase; DHPR; FLJ42391; PKU2; SDR33C1; QDPR active protein

• Host: E Coli
• Purity/Purification: >=90%
• Form/Format: 1 mg/ml solution in 20 mM Tris-HCl buffer (pH 8.0) containing 10% glycerol and 2 mM DTT; Appearance: Liquid
• Concentration: 1 mg/ml (varies by lot)
• Sequence: MGSSHHHHHH SSGLVPRGSH MGSMAAAAAA GEARRVLVYG GRGALGSRCV QAFRARNWWV ASVDVVENEE ASASIIVKMT DSFTEQADQV TAEVGKLLGE EKVDAILCVA GGWAGGNAKS KSLFKNCDLM WKQSIWTSTI SSHLATKHLK EGGLLTLAGA KAALDGTPGM IGYGMAKGAV HQLCQSLAGK NSGMPPGAAA IAVLPVTLDT PMNRKSMPEA DFSSWTPLEF LVETFHDWIT GKNRPSSGSL IQVVTTEGRT ELTPAYF
• Sequence Length: 244

• Applicable Applications for QDPR active protein: SDS-PAGE
• Biological Activity: Specific activity: > 27 units/ml One unit will oxidize 1.0 umole of b-NADH to b-NAD with 6,7-Dimethyldihydropterine (quinonoid isomer) as the non-nucleotide substrate per minute at pH 7.2 at 25 degree C
• Results: Specific activity: > 27 units/ml
• Unit Definition: One unit will oxidize 1.0 umole of b-NADH to b-NAD with 6,7-Dimethyldihydropterine (quinonoid isomer) as the non-nucleotide substrate per minute at pH 7.2 at 25 degree C
• Handling: Centrifuge the vial prior to opening.
• Preparation and Storage: At -20 degree C; Shelf Life: 12 months

Testing Data

Related Product Information for QDPR active protein

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.

Product Categories/Family for QDPR active protein

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

NCBI and Uniprot Product Information

• NCBI GI #: 208973246
• NCBI GeneID: 5860
• NCBI Accession #: NP_000311.2
• NCBI GenBank Nucleotide #: NM_000320.2
• UniProt Accession #: P09417; Q53F52; Q9H3M5; A8K158; B3KW71
• Molecular Weight: 28.2 kDa (267 aa, 1-244 aa + His Tag)
• NCBI Official Full Name: dihydropteridine reductase isoform 1
• NCBI Official Synonym Full Names: quinoid dihydropteridine reductase
• NCBI Official Symbol: QDPR
• NCBI Official Synonym Symbols: DHPR; PKU2; SDR33C1
• NCBI Protein Information: dihydropteridine reductase
• UniProt Protein Name: Dihydropteridine reductase
• Protein Family: Dihydropteridine reductase
• UniProt Gene Name: QDPR
• UniProt Synonym Gene Names: DHPR; SDR33C1
• UniProt Entry Name: DHPR_HUMAN

NCBI Description

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]

Uniprot Description

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