Gene Symbol | SPR |
Entrez Gene ID | 6697 |
Full Name | sepiapterin reductase |
Synonyms | SDR38C1 |
General protein information |
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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) |