sepiapterin reductase

ENTREZID: 6697 | Type: Protein Coding | Map: 2p13.2

OMIM: 617140 | 182465

Summary Entrez
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]