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SLC25A22 encodes a mitochondrial glutamate carrier. Additionally we are shipping SLC25A22 Antibodies (12) and many more products for this protein.
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SLC25A22 is responsible for migrating partial seizures in infancy, demonstrated by combining linkage analysis and whole exome sequencing.
Compares and contrasts all the known human SLC25A (show SLC25A25 Proteins)* genes and includes functional information.
A novel SLC25A22 mutation in an unrelated patient born from first cousin Algerian parents and presenting severe epileptic encephalopathy, is described.
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.
glutamate/H(+) symporter 1
, mitochondrial glutamate carrier 1
, solute carrier family 25 member 22
, solute carrier family 25 (mitochondrial carrier, glutamate), member 22