{"symbol":"SPR","synonyms":["SDR38C1"],"name":"sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)","description":"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]","ncbiEntrezGeneId":6697,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/6697","proteins":[{"symbol":"SPRE_HUMAN","href":"/api/1.0/protein/SPRE_HUMAN"}],"hgncRootFamilies":[{"name":"Short chain dehydrogenase/reductase superfamily (SDR)","href":"/api/1.0/gene_family/Short+chain+dehydrogenase%24slash%24reductase+superfamily+%28SDR%29"}]}