SPR
Chr 2ADARsepiapterin reductase
Also known as: SDR38C1
The protein catalyzes the final reductions in tetrahydrobiopterin (BH4) biosynthesis through NADPH-dependent reduction of pteridine derivatives. Mutations cause dopa-responsive dystonia due to sepiapterin reductase deficiency, which can be inherited in either autosomal recessive or autosomal dominant patterns. The pathogenic mechanism involves deficient BH4 production, leading to impaired neurotransmitter synthesis.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SPR · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools