rs146099322

This variant is located in the SPR gene.

▶

ClinVar annotation

Conflicting Classifications
10 submitters2 publications

not provided; not specified; Dystonic disorder; Dopa-responsive dystonia due to sepiapterin reductase deficiency; SPR-related disorder

View on ClinVar →

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]

View all SPR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…