Dihydropteridine reductase, HDHPR, Quinoid dihydropteridine reductase, QDPR, DHPR, PKU2, SDR33C1.
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.
Dihydropteridine reductase, HDHPR, Quinoid dihydropteridine reductase, QDPR, DHPR, PKU2, SDR33C1.
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.
The QDPR gene is located on the short arm of chromosome 4 (4p15.32) and spans approximately 52,000 base pairs . The gene encodes a protein that consists of 267 amino acids and has a molecular mass of approximately 28.2 kDa . The recombinant form of QDPR is often produced in E. coli and includes a His-tag for purification purposes .
QDPR catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin to tetrahydrobiopterin (BH4) . BH4 is essential for the activity of several hydroxylases, including phenylalanine hydroxylase, which converts phenylalanine to tyrosine . This process is vital for the proper metabolism of phenylalanine and the synthesis of neurotransmitters such as dopamine and serotonin .
Mutations in the QDPR gene can lead to dihydropteridine reductase deficiency, a condition that results in atypical phenylketonuria (PKU) . This deficiency impairs the production of BH4, leading to elevated levels of phenylalanine in the blood and subsequent neurological issues if left untreated . The condition is typically managed through dietary restrictions and BH4 supplementation .