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This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1.
, short chain dehydrogenase/reductase family 38C, member 1
, 7,8-dihydrobiopterin:NADP+ oxidoreductase
, Sepiapterin reductase
, sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)