Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+).
Highly expressed in most tissues.
Involvement in disease
Defects in SLC25A22 are the cause of epileptic encephalopathy early infantile type 3 (EIEE3) [MIM:609304]; also known as early myoclonic encephalopathy (EME) or neonatal epilepsy with suppression-burst pattern. Severe neonatal epilepsies with suppression-burst pattern are early-onset epileptic syndromes characterized by a typical EEG pattern. The suppression-burst pattern of the EEG is characterized by higher-voltage bursts of slow waves mixed with multifocal spikes alternating with isoelectric suppression phases. EME is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis of EME is poor, with no effective treatment, and children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state. EME inheritance is autosomal recessive.
Belongs to the mitochondrial carrier family. Contains 3 Solcar repeats.