SPR, Official Symbol SPRprovided by HGNC Official Full Name sepiapterin reductaseprovided by HGNC Primary source HGNC:HGNC:11257 See related Ensembl:ENSG00000116096 MIM:182125; AllianceGenome:HGNC:11257 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SDR38C1 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] Expression Ubiquitous expression in kidney (RPKM 23.8), colon (RPKM 21.8) and 24 other tissues See more Orthologs mouse all