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sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)

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NCBI Description of SPR
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.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

SPR is highly significantly mutated in
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SPR is significantly mutated in
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SPR is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for SPR