SLC25A12
Description
The SLC25A12 (solute carrier family 25 member 12) is a protein-coding gene located on chromosome 2.
SLC25A12, also known as Aralar1, is a protein encoded by the SLC25A12 gene in humans. It is an integral membrane protein found in the inner mitochondrial membrane. Its primary function is to transport cytoplasmic glutamate with mitochondrial aspartate across the inner mitochondrial membrane, a process dependent on calcium binding. Mutations in this gene lead to early infantile epileptic encephalopathy 39 (EIEE39), characterized by global hypomyelination of the central nervous system, persistent seizures, and neurodevelopmental delays. This gene has been linked to autism. The SLC25A12 gene is located on chromosome 2, spanning 110,902 base pairs. The protein it produces is 74.8 kDa and comprises 678 amino acids. The N-terminal half of Aralar1 contains two imperfect EF-hand domains and three canonical EF-hand calcium-binding domains, responsible for calcium binding in vitro. The C-terminal half shares similarities with other members of the mitochondrial solute carrier family, including SLC25A11, SLC25A5, and SLC25A1, and contains six putative transmembrane domains.
SLC25A12 is a mitochondrial electrogenic aspartate/glutamate antiporter that facilitates the movement of aspartate out of and glutamate and a proton into the mitochondria. This activity is part of the malate-aspartate shuttle. SLC25A12 also mediates the uptake of L-cysteinesulfinate by mitochondria in exchange for L-glutamate and a proton. Additionally, it can exchange L-cysteinesulfinate with aspartate in their anionic forms without proton translocation.
SLC25A12 is also known as AGC1, ARALAR, DEE39, EIEE39.
