Gene
slc25a1b
- ID
- ZDB-GENE-130114-1
- Name
- slc25a1 solute carrier family 25 member 1b
- Symbol
- slc25a1b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to have transmembrane transporter activity. Predicted to be involved in mitochondrial citrate transmembrane transport. Predicted to localize to integral component of membrane and mitochondrial inner membrane. Human ortholog(s) of this gene implicated in 2-hydroxyglutaric aciduria; combined D-2- and L-2-hydroxyglutaric aciduria; and congenital myasthenic syndrome. Orthologous to human SLC25A1 (solute carrier family 25 member 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Chaouch et al., 2014
- 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 |
|---|---|---|---|
| combined D-2- and L-2-hydroxyglutaric aciduria | Alliance | Combined D-2- and L-2-hydroxyglutaric aciduria | 615182 |
| Myasthenic syndrome, congenital, 23, presynaptic | 618197 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Mitochondrial carrier domain superfamily | Mitochondrial carrier protein | Mitochondrial substrate/solute carrier |
|---|---|---|---|---|
|
UniProtKB:F1R4U0
|
317 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available