SLC25A12 Gene Summary [Human]
This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
Details
| Type | Protein Coding |
| Official Symbol | SLC25A12 |
| Official Name | solute carrier family 25 member 12 [Source:HGNC Symbol;Acc:HGNC:10982] |
| Ensembl ID | ENSG00000115840 |
| Bio databases IDs | |
| Aliases | solute carrier family 25 member 12 |
| Synonyms | 2610002D09Rik, AGC1, ARALAR, Aralar1, B230107K20RIK, DEE39, EIEE39, LOC100360985, RGD1561141, solute carrier family 25 member 12, solute carrier family 25 (mitochondrial carrier, Aralar), member 12 |
| 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 SLC25A12 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 ion transporter
- EF-hand domain pair
- Mitochondrial carrier protein
- sulfur amino acid transporter
- L-amino acid transporter
- dicarboxylic acid transporter
- calcium ion binding
- protein binding
- acidic amino acid transporter
- identical protein binding
- cation transporter
- EFh_PI-PLC
- neutral amino acid transporter
- antiporter
- C4-dicarboxylate transporter
- amino acid transporter
- transporter
- calcium binding domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- global cerebral hypomyelination
- Crohn disease
- hereditary disorder
- hyperopia
- sporadic amyotrophic lateral sclerosis
- myopia
- mitochondrial disorder
- refractive error
- major depression
- Sengers syndrome
role in cell
- expression in
- cell death
- production in
- hyperpolarization
- respiration in
- mitochondrial respiration in
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
- myelin enriched fraction
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- Mitochondria
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC25A12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- gluconeogenesis
- malate-aspartate shuttle
- aspartate family amino acid metabolic process
- response to calcium ion
- neutral amino acid transport
- L-glutamate transport
- aspartate transport
- L-aspartate transport
Cellular Component
Where in the cell the gene product is active
- membrane
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- calcium ion binding
- acidic amino acid transmembrane transporter activity
- L-aspartate transmembrane transporter activity
- L-glutamate transmembrane transporter activity