Protein Name sepiapterin reductase
Organism Homo sapiens
Gene ID 6697
Gene Symbol

SPR

UniProt P35270 (SPRE_HUMAN)
Relationships Total Number of functionally related compound(s) : 416
Total Number of Articles : 442
Description

sepiapterin reductase

Gene Summary

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]

synonyms
  • sepiapterin reductase
  • Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)
  • sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
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Properties