SPR Chromosome 2
Sepiapterin reductase
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What This Gene Does
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 Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
2p13.2
Ensembl
ENSG00000116096
Associated Conditions (6)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Dystonic disorder
SPR-related disorder
Inborn genetic diseases
Intellectual disability
Sarcoma
Key Variants
RS1030979700
Conflicting classifications of pathogenicity
Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency
Health Risk
RS1366748724
Conflicting classifications of pathogenicity
Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder
Health Risk
RS139708286
Conflicting classifications of pathogenicity
Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency
Health Risk
RS1450742178
Conflicting classifications of pathogenicity
Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency
Health Risk
RS1453510719
Conflicting classifications of pathogenicity
Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency
Health Risk
RS146099322
Conflicting classifications of pathogenicity
Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency, SPR-related disorder
Health Risk
RS146392372
Conflicting classifications of pathogenicity
Dystonic disorder, Dystonic disorder
Health Risk
RS1670578079
Conflicting classifications of pathogenicity
Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency
Health Risk
RS192766290
Conflicting classifications of pathogenicity
Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency
Health Risk
RS200845457
Conflicting classifications of pathogenicity
Dystonic disorder, Dystonic disorder
Health Risk
RS371904378
Conflicting classifications of pathogenicity
Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency, Inborn genetic diseases
Health Risk
RS564501639
Conflicting classifications of pathogenicity
Dopa-responsive dystonia due to sepiapterin reductase deficiency, Inborn genetic diseases, Dopa-responsive dystonia due to sepiapterin reductase deficiency
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1030979700 | Health Risk | Conflicting classifications of pathogenicity | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS1366748724 | Health Risk | Conflicting classifications of pathogenicity | Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder |
| RS139708286 | Health Risk | Conflicting classifications of pathogenicity | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS1450742178 | Health Risk | Conflicting classifications of pathogenicity | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS1453510719 | Health Risk | Conflicting classifications of pathogenicity | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS146099322 | Health Risk | Conflicting classifications of pathogenicity | Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency, SPR-related disorder |
| RS146392372 | Health Risk | Conflicting classifications of pathogenicity | Dystonic disorder, Dystonic disorder |
| RS1670578079 | Health Risk | Conflicting classifications of pathogenicity | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS192766290 | Health Risk | Conflicting classifications of pathogenicity | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS200845457 | Health Risk | Conflicting classifications of pathogenicity | Dystonic disorder, Dystonic disorder |
| RS371904378 | Health Risk | Conflicting classifications of pathogenicity | Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency, Inborn genetic diseases |
| RS564501639 | Health Risk | Conflicting classifications of pathogenicity | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Inborn genetic diseases, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS886056287 | Health Risk | Conflicting classifications of pathogenicity | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS1434497201 | Health Risk | Likely pathogenic | — |
| RS1553498611 | Health Risk | Likely pathogenic | — |
| RS1573881742 | Health Risk | Likely pathogenic | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS1573882444 | Health Risk | Likely pathogenic | — |
| RS1670576656 | Health Risk | Likely pathogenic | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS1670577442 | Health Risk | Likely pathogenic | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS2105243192 | Health Risk | Likely pathogenic | Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder |
| RS2528319905 | Health Risk | Likely pathogenic | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS758245029 | Health Risk | Likely pathogenic | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS104893665 | Health Risk | Pathogenic | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder, SPR-related disorder |
| RS104893666 | Health Risk | Pathogenic | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS121917746 | Health Risk | Pathogenic | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS121917747 | Health Risk | Pathogenic | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS1247454080 | Health Risk | Pathogenic | Dystonic disorder, Dystonic disorder |
| RS1280934208 | Health Risk | Pathogenic | Dystonic disorder, Dystonic disorder |
| RS1331561092 | Health Risk | Pathogenic | Dystonic disorder, Dystonic disorder |
| RS146349901 | Health Risk | Pathogenic | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS1553498582 | Health Risk | Pathogenic | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS1573882268 | Health Risk | Pathogenic | Intellectual disability, Dystonic disorder, Intellectual disability |
| RS1670562308 | Health Risk | Pathogenic | Dystonic disorder, Dystonic disorder |
| RS1670562900 | Health Risk | Pathogenic | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS1670577739 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1670619549 | Health Risk | Pathogenic | Dystonic disorder, Dystonic disorder |
| RS2105241166 | Health Risk | Pathogenic | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS387907200 | Health Risk | Pathogenic | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS398122922 | Health Risk | Pathogenic | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Sarcoma, Dystonic disorder |
| RS587776777 | Health Risk | Pathogenic | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS761407827 | Health Risk | Pathogenic | Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder |
| RS779204655 | Health Risk | Pathogenic | Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| RS375730088 | Health Risk | Pathogenic/Likely pathogenic | Dystonic disorder, Dystonic disorder |