蛋白

Recombinant Human Quinoid Dihydropteridine Reductase

MBS144753

0.005毫克

140美元

重组蛋白

Recombinant Human Quinoid Dihydropteridine Reductase

Quinoid Dihydropteridine Reductase

QDPR Human; Quinoid Dihydropteridine Reductase Human Recombinant; Dihydropteridine reductase; HDHPR; Quinoid dihydropteridine reductase; QDPR; DHPR; PKU2; SDR33C1

dihydropteridine reductase; Dihydropteridine reductase; dihydropteridine reductase; 6,7-dihydropteridine reductase; HDHPR; short chain dehydrogenase/reductase family 33C, member 1; quinoid dihydropteridine reductase; HDHPR; Quinoid dihydropteridine reductase

QDPR

QDPR;QDPR;DHPR;PKU2;SDR33C1;DHPR

DHPR_HUMAN

大肠杆菌

244

Greater than 90.0% as determined by SDS-PAGE.

QDPR protein solution (1mg/ml) containing 20mM Tris-HCl buffer (pH 8.0), 10% glycerol and 2mM DTT. Sterile Filtered colorless solution.

ENZYMES;酶;还原酶

Description: 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. Introduction: 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.

208973246

NP_000311.2

NM_000320.2

P09417

22,408 Da

Folate Biosynthesis Pathway (83018); Folate Biosynthesis Pathway (404); Metabolic Pathways (132956); Metabolism Pathway (477135); Metabolism Of Amino Acids And Derivatives Pathway (106169); Phenylalanine And Tyrosine Catabolism Pathway (106189); Phenylalanine Degradation I (aerobic) Pathway (139195); Phenylalanine Degradation/tyrosine Biosynthesis Pathway (142375)

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: EC 1.5.1.34; Oxidoreductase; 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

0.005毫克

140美元

0.02毫克

205

1毫克

3490