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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SPR-20-RE | 20 (40 μL) | 200 μL |  |
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| SPR-20-OR | 20 (40 μL) | 200 μL |  |
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| SPR-20-GO | 20 (40 μL) | 200 μL |  |
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| SPR-20-GR | 20 (40 μL) | 200 μL |  |
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| SPR-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : SPR
Gene Name : Sepiapterin reductase
Chromosome : CHR 2: 728,873,82-728,921,59
Locus : 2p13.2
Alt. Genes : KIF20A
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