SLC25A22
SLC25A22 is a gene that provides instructions for making a protein involved in transporting specific molecules across the inner membrane of mitochondria, the energy-producing structures in cells. This protein plays a crucial role in the metabolism of certain amino acids, particularly glutamate and aspartate, which are vital for various cellular functions.
Mutations in the SLC25A22 gene can lead to a rare genetic disorder known as neonatal epileptic encephalopathy. This condition is characterized by severe seizures and developmental delays in infants. Understanding the function of SLC25A22 helps researchers explore potential treatments for related metabolic disorders.