Protein Name | sepiapterin reductase |
---|---|
Organism | Homo sapiens |
Gene ID | 6697 |
Gene Symbol | SPR |
UniProt | P35270 (SPRE_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
416
Total Number of Articles : 442 |
Description |
sepiapterin reductase |
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, Jul 2008] |
synonyms |
|
Properties | |