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qdpr

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Official Full Name
quinoid dihydropteridine reductase
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.
Synonyms
QDPR; quinoid dihydropteridine reductase; dihydropteridine reductase; 6; 7 dihydropteridine reductase; DHPR; PKU2; SDR33C1; short chain dehydrogenase/reductase family 33C; member 1; DHPR_HUMAN; HDHPR; HPR; OTTHUMP00000158671; OTTHUMP00000217799; OTTHUMP00000217800; OTTHUMP00000217802; OTTHUMP00000217914; OTTHUMP00000217915; 6,7-dihydropteridine reductase; short chain dehydrogenase/reductase family 33C, member 1; FLJ42391