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
- Predicted to enable citrate secondary active transmembrane transporter activity. Involved in neuromuscular junction development. Acts upstream of or within regulation of mitochondrion organization. Predicted to be located in mitochondrial inner membrane. Predicted to be active in mitochondrion. 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 |
|---|---|---|---|
|
UniProtKB:Q6PGY3
|
359 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
slc25a1a-201
(1)
|
1909 nt |
Interactions and Pathways
No data available
Plasmids
No data available