SLC25A22

SLC25A22 is a gene that encodes a member of the solute carrier family 25, specifically the member 22 (SLC25A22). This gene is located on chromosome 11 in humans. The protein encoded by this gene is a mitochondrial glutamate carrier. Mutations in this gene have been associated with early infantile epileptic encephalopathy.

Function

The SLC25A22 gene provides instructions for making a protein that is found in mitochondria, the energy-producing centers within cells. This protein is involved in transporting glutamate, an important neurotransmitter, across the inner mitochondrial membrane. Glutamate plays a key role in cell communication and is involved in various metabolic processes.

Clinical significance

Mutations in the SLC25A22 gene have been associated with several neurological disorders, including early infantile epileptic encephalopathy (EIEE), migrating partial seizures of infancy (MPSI), and epileptic encephalopathy. These conditions are characterized by recurrent seizures (epilepsy) and impaired development.

Research

Research into the SLC25A22 gene and its associated conditions is ongoing. Understanding the role of this gene in neurological disorders may lead to new treatments and therapies for these conditions.

See also

• Solute carrier family
• Mitochondria
• Neurotransmitter
• Epileptic encephalopathy

References

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