Human QDPR Recombinant Protein (RPPB2236)
- SKU:
- RPPB2236
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- P09417
- Research Area:
- Enzymes
Description
| Product Name: | Human QDPR Recombinant Protein |
| Product Code: | RPPB2236 |
| Size: | 20µg |
| Species: | Human |
| Target: | QDPR |
| Synonyms: | Dihydropteridine reductase, HDHPR, Quinoid dihydropteridine reductase, QDPR, DHPR, PKU2, SDR33C1. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | QDPR protein solution (1mg/ml) containing 20mM Tris-HCl buffer (pH 8.0), 10% glycerol and 2mM DTT. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks.Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 90.0% as determined by SDS-PAGE. |
| Amino Acid 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 |
QDPR belongs to the short-chain dehydrogenases/reductase (SDR) family of enzymes. Operating as a homodimer, QDPR has an imperative role in the recycling of tetrahydrobiopterin (BH4), a vital cofactor for the hydroxylation of the aromatic amino acids (tryptophan, tyrosine and phenylalanine). More precisely, QDPR catalyzes the regeneration of BH4 from quinonoid dihydrobiopterin (qBH2), the product generated from the hydroxylation reactions. Mutations in the QDPR gene may lead to phenylketonuria II.
QDPR Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 267 amino acids (1-244 a.a.) and having a molecular mass of 28.2kDa.QDPR is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | 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. |
| UniProt Protein Details: | Protein type:Oxidoreductase; Cofactor and Vitamin Metabolism - folate biosynthesis; EC 1.5.1.34 Chromosomal Location of Human Ortholog: 4p15.31 Cellular Component: cytoplasm; cytosol Molecular Function:6,7-dihydropteridine reductase activity; electron carrier activity Biological Process: amino acid metabolic process; dihydrobiopterin metabolic process; L-phenylalanine catabolic process Disease: Hyperphenylalaninemia, Bh4-deficient, C |
| NCBI Summary: | 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 Code: | P09417 |
| NCBI GenInfo Identifier: | 118572639 |
| NCBI Gene ID: | 5860 |
| NCBI Accession: | P09417.2 |
| UniProt Secondary Accession: | P09417,Q53F52, Q9H3M5, A8K158, B3KW71, |
| UniProt Related Accession: | P09417 |
| Molecular Weight: | 22,408 Da |
| NCBI Full Name: | Dihydropteridine reductase |
| NCBI 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 |
| UniProt Synonym Protein Names: | HDHPR; Quinoid dihydropteridine reductase; Short chain dehydrogenase/reductase family 33C member 1 |
| Protein Family: | Dihydropteridine reductase |
| UniProt Gene Name: | QDPR�� |
| UniProt Entry Name: | DHPR_HUMAN |
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