SLC25A22 Gene Summary [Human]
This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]
Details
| Type | Protein Coding |
| Official Symbol | SLC25A22 |
| Official Name | solute carrier family 25 member 22 [Source:HGNC Symbol;Acc:HGNC:19954] |
| Ensembl ID | ENSG00000177542 |
| Bio databases IDs | |
| Aliases | solute carrier family 25 member 22, Early infantile epileptic encephalopathy 3 |
| Synonyms | 1300006L01RIK, DEE3, EIEE3, GC-1, LOC100911440, NET44, RGD1307826, solute carrier family 25 member 22, solute carrier family 25 (mitochondrial carrier, glutamate), member 22 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SLC25A22 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- hydrogen:amino acid symporter
- glutamate transporter
- Mitochondrial carrier protein
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- early infantile epileptic encephalopathy type 3
- Ohtahara syndrome
- early myoclonic encephalopathy
- developmental epileptic encephalopathy
- Sengers syndrome
regulates
- insulin
- L-glutamic acid
- ion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial matrix
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC25A22 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of insulin secretion
- ion transport
- malate-aspartate shuttle
- L-glutamate transport
- aspartate transport
- L-aspartate transport
Cellular Component
Where in the cell the gene product is active
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- hydrogen:amino acid symporter activity
- L-aspartate transmembrane transporter activity
- L-glutamate transmembrane transporter activity