QDPR

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]

Full Name

quinoid dihydropteridine reductase

Function

Catalyzes the conversion of quinonoid dihydrobiopterin into tetrahydrobiopterin.

Biological Process

Biological Process cellular amino acid metabolic processManual Assertion Based On ExperimentTAS:ProtInc
Biological Process dihydrobiopterin metabolic processManual Assertion Based On ExperimentTAS:ProtInc
Biological Process L-phenylalanine catabolic processManual Assertion Based On ExperimentIBA:GO_Central
Biological Process tetrahydrobiopterin biosynthetic processManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

cytoplasm
cytosol
extracellular exosome

Involvement in disease

Hyperphenylalaninemia, BH4-deficient, C (HPABH4C):
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. Patients do not respond to phenylalanine-restricted diet. HPABH4C is lethal if untreated.