Calcium-dependent mitochondrial aspartate and glutamate carrier. May have a function in the urea cycle.
High levels in heart and skeletal muscle, low in brain and very low in kidney.
Involvement in disease
Defects in SLC25A12 are the cause of aspartate-glutamate carrier 1 deficiency (AGC1D) [MIM:612949]; also called global cerebral hypomyelination. This syndrome consists of a child severe psychomotor retardation, hypotonia and hypomyelination of the central nervous system.
Belongs to the mitochondrial carrier family. Contains 4 EF-hand domains. Contains 3 Solcar repeats.