SPR 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.
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Protein Aliases: SDR38C1; Sepiapterin reductase; short chain dehydrogenase/reductase family 38C, member 1; SPR
Gene Aliases: SDR38C1; SPR
UniProt ID: (Human) P35270
Entrez Gene ID: (Human) 6697