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SPR is 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.
Gene Name: | sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) |
Synonyms: | SPR, SDR38C1, Sepiapterin reductase |
Target Sequences: | NM_003124 NP_003115.1 P35270 |
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