Entrez gene ID | | 6697 |
Official gene symbol | | SPR |
Full name | | sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) |
Aliases | | ,SDR38C1, |
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] |
Location | | Chromosome: 2 Locus: 2p14-p12 |
Gene position | | 73114512 - 73119289 Map Viewer |
Gene orientation | | plus |
Gene size | | 4778 bp |
Gene sequence |
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OMIM ID | | 182125 |