Aliases for QDPR Gene
External Ids for QDPR Gene
Previous GeneCards Identifiers for QDPR Gene
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]
GeneCards Summary for QDPR Gene
QDPR (Quinoid Dihydropteridine Reductase) is a Protein Coding gene. Diseases associated with QDPR include Hyperphenylalaninemia, Bh4-Deficient, C and Phenylketonuria. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and phenylalanine degradation/tyrosine biosynthesis. GO annotations related to this gene include protein homodimerization activity and electron carrier activity.
UniProtKB/Swiss-Prot for QDPR Gene
The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases.