Gene
spra
- ID
- ZDB-GENE-050522-412
- Name
- sepiapterin reductase a
- Symbol
- spra Nomenclature History
- Previous Names
-
- spr
- fj86h06
- wu:fj86h06
- zgc:112298
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to have sepiapterin reductase activity. Predicted to be involved in tetrahydrobiopterin biosynthetic process. Human ortholog(s) of this gene implicated in dystonia and sepiapterin reductase deficiency. Is expressed in diencephalon; melanocyte; midbrain hindbrain boundary; and presumptive neural retina. Orthologous to human SPR (sepiapterin reductase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:112298 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| sepiapterin reductase deficiency | Alliance | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | 612716 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Biopterin synthesis and organic compound reduction | NAD(P)-binding domain superfamily | Sepiapterin reductase | Short-chain dehydrogenase/reductase SDR |
|---|---|---|---|---|---|
|
UniProtKB:F1QWX4
|
261 |
Interactions and Pathways
No data available
Plasmids
No data available