QDPR, Official Symbol QDPRprovided by HGNC Official Full Name quinoid dihydropteridine reductaseprovided by HGNC Primary source HGNC:HGNC:9752 See related Ensembl:ENSG00000151552 MIM:612676; AllianceGenome:HGNC:9752 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DHPR; PKU2; HDHPR; 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 See more Orthologs mouse all