Reactivities: | Human |
Presku: | AAP59628 |
Size: | 100ug |
Weight: | 28kDa |
Gene: | 6697 |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | SDR38C1 |