XB-FEAT-977813

spr

This is the community wiki page for the gene spr please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

nomenclature changes

08/07/2017

Human name has changed for Entrez Gene: 6697. From sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) to sepiapterin reductase

summary from NCBI

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]