SLC25A22 gene

solute carrier family 25 member 22

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]

From UniProt:

Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+).

From NCBI Gene:

  • Early myoclonic encephalopathy

From UniProt:

Epileptic encephalopathy, early infantile, 3 (EIEE3): 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. [MIM:609304]

Cytogenetic Location: 11p15.5, which is the short (p) arm of chromosome 11 at position 15.5

Molecular Location: base pairs 790,475 to 798,269 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11p15.5, which is the short (p) arm of chromosome 11 at position 15.5
  • EIEE3
  • GC-1
  • GC1
  • NET44