Recombinant Human Quinoid Dihydropteridine Reductase | MyBioSource MBS144753 product information

product summary

company name :

MyBioSource

product type :

protein

product name :

Recombinant Human Quinoid Dihydropteridine Reductase

catalog :

MBS144753

quantity :

0.005 mg

price :

140 USD

more info or order :

MyBioSource product webpage

product information

catalog number :

MBS144753

products type :

Recombinant Protein

products full name :

Recombinant Human Quinoid Dihydropteridine Reductase

products short name :

Quinoid Dihydropteridine Reductase

products name syn :

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

other names :

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

products gene name :

QDPR

other gene names :

QDPR; QDPR; DHPR; PKU2; SDR33C1; DHPR

uniprot entry name :

DHPR_HUMAN

host :

E Coli

sequence length :

244

purity :

Greater than 90.0% as determined by SDS-PAGE.

form :

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

products categories :

ENZYMES; Enzymes; Reductase

products description :

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.

ncbi gi num :

208973246

ncbi acc num :

NP_000311.2

ncbi gb acc num :

NM_000320.2

uniprot acc num :

P09417

ncbi mol weight :

22,408 Da

ncbi pathways :

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)

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 summary :

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

size1 :

0.005 mg

price1 :

140 USD

size2 :

0.02 mg

price2 :

205

size3 :

1 mg

price3 :

3490

more info or order :

MyBioSource product webpage