SLC25A12

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]

Full Name

Solute Carrier Family 25 Member 12

Function

Mitochondrial electrogenic aspartate/glutamate antiporter that favors efflux of aspartate and entry of glutamate and proton within the mitochondria as part of the malate-aspartate shuttle (PubMed:11566871, PubMed:19641205, PubMed:24515575).
Also mediates the uptake of L-cysteinesulfinate by mitochondria in exchange of L-glutamate and proton. Can also exchange L-cysteinesulfinate with aspartate in their anionic form without any proton translocation (PubMed:11566871).

Biological Process

Biological Process aspartate family amino acid metabolic processTAS:Reactome
Biological Process aspartate transmembrane transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process gluconeogenesisTAS:Reactome
Biological Process glutamate biosynthetic processIEA:Ensembl
Biological Process L-glutamate transmembrane transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process malate-aspartate shuttleManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of glucose catabolic process to lactate via pyruvateIEA:Ensembl
Biological Process positive regulation of ATP biosynthetic processIEA:Ensembl
Biological Process positive regulation of glucose metabolic processIEA:Ensembl
Biological Process positive regulation of myelinationIEA:Ensembl
Biological Process response to calcium ionManual Assertion Based On ExperimentIDA:UniProtKB

Cellular Location

Mitochondrion inner membrane

Involvement in disease

Developmental and epileptic encephalopathy 39 (DEE39):
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE39 is characterized by global hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Inheritance is autosomal recessive.

Topology

Mitochondrial intermembrane: 2-329
Helical: 330-347
Mitochondrial matrix: 348-390
Helical: 391-410
Mitochondrial intermembrane: 411-433
Helical: 434-447
Mitochondrial matrix: 448-482
Helical: 483-502
Mitochondrial intermembrane: 503-521
Helical: 522-539
Mitochondrial matrix: 540-578
Helical: 579-598
Mitochondrial intermembrane: 599-678