Full name: quinoid dihydropteridine reductase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: DHPR; HDHPR; PKU2; SDR33C1

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]

Expression: Broad expression in brain (RPKM 86.6), kidney (RPKM 64.2) and 24 other tissues

Gene size: 25696bp

Exon count: 7