SLC25A3
SLC25A3 is a gene that encodes a protein responsible for transporting specific molecules across the inner membrane of mitochondria, the energy-producing structures in cells. This protein primarily facilitates the transport of phosphate and other metabolites, which are essential for cellular energy production and metabolism.
Mutations in the SLC25A3 gene can lead to various health issues, including mitochondrial diseases. These conditions often affect energy production in cells, resulting in symptoms such as muscle weakness, neurological problems, and organ dysfunction. Understanding SLC25A3 is crucial for diagnosing and developing treatments for these mitochondrial disorders.