| Gene Symbol | SPR |
| Entrez Gene ID | 6697 |
| Full Name | sepiapterin reductase |
| Synonyms | SDR38C1 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: | |
| Disorder Html: | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3) |








































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