MGP Database

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MGP005911

UniProt Annotations

Entry Information
Gene Namesolute carrier family 25 (mitochondrial carrier: glutamate), member 22
Protein EntryGHC1_HUMAN
UniProt IDQ9H936
SpeciesHuman
Comments
Comment typeDescription
DiseaseEpileptic encephalopathy, early infantile, 3 (EIEE3) [MIM:609304]: A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high- voltage bursts alternating with almost flat suppression phases. Epileptic encephalopathy early infantile type 3 is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis 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. {ECO:0000269|PubMed:15592994}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInvolved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+). {ECO:0000269|PubMed:11897791}.
Sequence CautionSequence=AAH24212.2; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the mitochondrial carrier (TC 2.A.29) family. {ECO:0000305}.
SimilarityContains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule:PRU00282}.
Subcellular LocationMitochondrion inner membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Tissue SpecificityHighly expressed in most tissues.
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