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.
Protein Aliases: Sepiapterin reductase; short chain dehydrogenase/reductase family 38C, member 1; SPR
Gene Aliases: AA409688; ENSMUSG00000071345; Gm10328; SDR38C1; SPR
UniProt ID: (Human) P35270