Protein Name quinoid dihydropteridine reductase
Organism Homo sapiens
Gene ID 5860
Gene Symbol

QDPR

UniProt P09417 (DHPR_HUMAN), A0A140VKA9 (A0A140VKA9_HUMAN)
Relationships Total Number of functionally related compound(s) : 134
Total Number of Articles : 130
Description

quinoid dihydropteridine reductase

Gene 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]

synonyms
  • dihydropteridine reductase
  • 6,7-dihydropteridine reductase
  • short chain dehydrogenase/reductase family 33C member 1
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Properties