SLC25A1

SLC25A1, also known as mitochondrial citrate carrier or CIC, is a critical protein involved in the transport of citrate between the mitochondrial matrix and the cytoplasm. This process is pivotal for fatty acid and sterol biosynthesis, gluconeogenesis, and glycolysis. SLC25A1 functions within the mitochondria, mediating the exchange of citrate/isocitrate with cytosolic malate, which is essential for the production of acetyl-CoA and oxaloacetate. Dysregulation of SLC25A1 has been linked to various neuromuscular disorders, including congenital myasthenic syndromes and D-2- and L-2-hydroxyglutaric aciduria, highlighting its role in metabolic pathways and cellular function. Research into SLC25A1 mutations and their impact on neuromuscular junctions and metabolic pathways has opened new avenues for drug development and therapeutic strategies.