rs104893666

This is a variant in the SPR gene that changes a proline to an leucine.

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ClinVar annotation

Pathogenic
1 submitter2 publications

Dopa-responsive dystonia due to sepiapterin reductase deficiency

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About 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. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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