Aliases for SPR Gene
External Ids for SPR Gene
Previous GeneCards Identifiers for SPR Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for SPR Gene
SPR (Sepiapterin Reductase (7,8-Dihydrobiopterin:NADP+ Oxidoreductase)) is a Protein Coding gene. Diseases associated with SPR include Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency and Dystonia. Among its related pathways are eNOS activation and regulation and Folate biosynthesis. GO annotations related to this gene include oxidoreductase activity and aldo-keto reductase (NADP) activity.
UniProtKB/Swiss-Prot for SPR Gene
Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin.