sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
Symbol
SPR
(may also be known as: None)
Organism
Human
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]
Orthologs
| Symbol | Species | |
|---|---|---|
| Sptr | Drosophila melanogaster | |
| sprb | Danio rerio | |
| Spr | Mus musculus | |
| Spr | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0006729 | tetrahydrobiopterin biosynthetic process | biological_process | |
| GO:0006809 | nitric oxide biosynthetic process | biological_process | |
| GO:0044281 | small molecule metabolic process | biological_process | |
| GO:0046209 | nitric oxide metabolic process | biological_process | |
| GO:0050999 | regulation of nitric-oxide synthase activity | biological_process | |
| GO:0055114 | oxidation-reduction process | biological_process | |
| GO:0005634 | nucleus | cellular_component | |
| GO:0005730 | nucleolus | cellular_component | |
| GO:0005737 | cytoplasm | cellular_component | |
| GO:0005829 | cytosol | cellular_component | |
| GO:0004033 | aldo-keto reductase (NADP) activity | molecular_function | |
| GO:0004757 | sepiapterin reductase activity | molecular_function | |
| GO:0016491 | oxidoreductase activity | molecular_function | |
| GO:0050661 | NADP binding | molecular_function | |