Ndufs2

Ndufs2, also known as NADH dehydrogenase (ubiquinone) flavoprotein 2, is a nuclear-encoded subunit of Complex I of the mitochondrial electron transport chain. Complex I is the largest enzyme complex within the inner mitochondrial membrane and plays a crucial role in cellular respiration by transferring electrons from NADH to ubiquinone, generating a proton gradient that drives ATP synthesis. The NDUFS2 gene provides instructions for making a protein component that is essential for the structural integrity and catalytic activity of Complex I. Mutations in the NDUFS2 gene have been associated with various neurological disorders, including Leigh syndrome and other mitochondrial encephalopathies. These mutations can impair the function of Complex I, leading to reduced ATP production and increased oxidative stress, which can have severe consequences for energy-demanding tissues like the brain and muscles. Research into NDUFS2 and its role in mitochondrial function continues to advance our understanding of these complex diseases and potential therapeutic strategies.