Gene
sprb
- ID
- ZDB-GENE-070719-1
- Name
- sepiapterin reductase b
- Symbol
- sprb Nomenclature History
- Previous Names
-
- zgc:194446
- Type
- protein_coding_gene
- Location
- Chr: 8 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. Orthologous to human SPR (sepiapterin reductase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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:B3DJY2
|
272 |
Interactions and Pathways
No data available
Plasmids
No data available