Calcium-binding mitochondrial carrier protein Aralar1

SLC25A12
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4P60, 4P5X,%%s4P5X, 4P60
Identifiers
Aliases	SLC25A12, AGC1, ARALAR, solute carrier family 25 member 12, EIEE39, DEE39
External IDs	OMIM: 603667; MGI: 1926080; HomoloGene: 48235; GeneCards: SLC25A12; OMA:SLC25A12 - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	171,999,859 bp
RNA expression pattern
	Top expressed in
	biceps brachii; ; Skeletal muscle tissue of biceps brachii; ; triceps brachii muscle; ; vastus lateralis muscle; ; muscle of thigh; ; myocardium of left ventricle; ; muscle of trunk; ; gastrocnemius muscle; ; thoracic diaphragm; ; Skeletal muscle tissue of rectus abdominis;
	n/a
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; metal ion binding; L-aspartate transmembrane transporter activity; L-glutamate transmembrane transporter activity; acidic amino acid transmembrane transporter activity; transmembrane transporter activity; identical protein binding;
Cellular component	membrane; myelin sheath; mitochondrion; mitochondrial inner membrane; integral component of membrane;
Biological process	gluconeogenesis; malate-aspartate shuttle; response to calcium ion; transmembrane transport; aspartate transmembrane transport; L-glutamate transmembrane transport; transport; glutamate biosynthetic process; positive regulation of glucose metabolic process; positive regulation of myelination; L-aspartate transmembrane transport; negative regulation of glucose catabolic process to lactate via pyruvate; positive regulation of ATP biosynthetic process; mitochondrial calcium ion transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	8604
	78830
	ENSG00000115840
	n/a
	O75746
	Q8BH59
	NM_003705
	NM_172436
	NP_003696
	NP_766024
	Wikidata
View/Edit Human	View/Edit Mouse

Calcium-binding mitochondrial carrier protein Aralar1 is a protein that in humans is encoded by the SLC25A12 gene. Aralar is an integral membrane protein located in the inner mitochondrial membrane. Its primary function as an antiporter is the transport of cytoplasmic glutamate with mitochondrial aspartate across the inner mitochondrial membrane, dependent on the binding of one calcium ion. Mutations in this gene cause early infantile epileptic encephalopathy 39 (EIEE39), symptomized by global hypomyelination of the central nervous system, refractory seizures, and neurodevelopmental impairment. This gene has connections to autism.