Recombinant Human Dihydropteridine reductase (QDPR)

Uniprot Id

P09417

Target Species

Human

Target Name

QDPR

Target Full Name

Dihydropteridine reductase

Target Function

The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases.

Target Involvement

Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)

Target Protein Families

Short-chain dehydrogenases/reductases (SDR) family

Target Synonyms

6,7 dihydropteridine reductase; DHPR; DHPR_HUMAN; Dihydropteridine reductase; HDHPR; HPR; PKU2; Qdpr; Quinoid dihydropteridine reductase; SDR33C1; Short chain dehydrogenase/reductase family 33C, member 1

Target Background

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.