XB-FEAT-977813: Difference between revisions
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=spr= | =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 | 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] | |||
Latest revision as of 08:05, 8 August 2017
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]