SLC25A12

The EF-hand 2 domain within the regulatory N-terminal domain binds one calcium in the mitochondrial intermembrane space. Calcium triggers the binding of the regulatory N-terminal domain to the C-terminal domain, opening a vestibule which allows the substrates to be translocated through the carrier domain. In the absence of calcium, the linker loop domain may close the vestibule and prevent substrates from entering the carrier domain.

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).

Developmental and epileptic encephalopathy 39 with leukodystrophy

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the mitochondrial carrier (TC 2.A.29) family.

Expressed predominantly in the heart and skeletal muscle, weakly in brain and kidney.

• Mitochondrion inner membrane
• Multi-pass membrane protein

AGC1, ARALAR1, SLC25A12, Araceli hiperlarga, Mitochondrial aspartate glutamate carrier 1, Solute carrier family 25 member 12, Aralar, Aralar1

• entrezGene:8604
• omim:603667
• swissprot:O75746

Proteins

Neuroscience

74762Da