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) 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 Biosynthesis of cofactors. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and aldo-keto reductase (NADP) activity.
UniProtKB/Swiss-Prot Summary for SPR Gene
Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin.