Gene
slc25a1a
- ID
- ZDB-GENE-040426-1172
- Name
- solute carrier family 25 member 1a
- Symbol
- slc25a1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Involved in regulation of mitochondrion organization. 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
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Catalina-Rodriguez et al., 2012
- 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 substrate/solute carrier | Tricarboxylate transport protein-like |
|---|---|---|---|---|
|
UniProtKB:Q6PGY3
|
359 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc25a1a-201
(1)
|
Ensembl | 1,909 nt |
Interactions and Pathways
No data available
Plasmids
No data available