SLC25A6
SLC25A6 is a gene that encodes a protein known as the mitochondrial aspartate/glutamate carrier. This protein is essential for transporting specific amino acids, particularly aspartate and glutamate, across the inner mitochondrial membrane. This transport is crucial for various metabolic processes, including energy production and the synthesis of important biomolecules.
Mutations in the SLC25A6 gene can lead to metabolic disorders, such as neonatal lactic acidosis and cardiomyopathy. These conditions can affect the body's ability to produce energy efficiently, leading to symptoms like muscle weakness and fatigue. Understanding the function of SLC25A6 is important for developing potential treatments for related diseases.