SLC25A20
SLC25A20 is a gene that encodes a protein responsible for transporting specific molecules across the inner mitochondrial membrane. This protein plays a crucial role in the metabolism of fatty acids, particularly in the transport of acylcarnitines, which are essential for energy production in cells.
Mutations in the SLC25A20 gene can lead to a rare genetic disorder known as carnitine-acylcarnitine translocase deficiency. This condition can result in various health issues, including muscle weakness, heart problems, and metabolic crises, highlighting the importance of this gene in maintaining cellular energy balance.