蛋白

QDPR, 1-244aa, 人类, 多聚组氨酸标签, 大肠杆菌

MBS204221

0.1毫克

375美元

重组蛋白

QDPR, 1-244aa, 人类, 多聚组氨酸标签, 大肠杆菌

QDPR

Quinoid dihydropteridine reductase; DHPR; FLJ42391; 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

244

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

> 90 % by SDS - PAGE

液体。 在20mM三羟甲基氨基甲烷氯化氢缓冲液(pH值8.0)含10% 甘油, 2mM DTT

1毫克/毫升(由布拉德福德Bradford检测确定)

Can be stored at 4 degree C short term (1-2 weeks). For long term storage, aliquot and store at -20 degree C or -70 degree C. Avoid repeated freezing and thawing cycles.

十二烷基磺酸钠-PAGE

Antigen Species: Human. Tag: His-tag

Expression System: E Coli

代谢

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.

Lye LF., et al. (2002) J Biol Chem. 277(41):38245-53. Kalkanoqlu HS., et al. (2001) Prenat Diagn. 21(10):868-70.

208973246

NP_000311

NM_000320.2

28.2 kDa (267aa), confirmed by MALDI-TOF

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

0.1毫克

375美元

0.5毫克

925