NDUFA2

NDUFA2, or NADH:ubiquinone oxidoreductase subunit A2, is a protein subunit of the mitochondrial respiratory chain complex I, also known as NADH dehydrogenase. Complex I is the first enzyme complex in the electron transport chain and plays a critical role in cellular respiration and energy production.

NDUFA2 is a nuclear-encoded subunit that is imported into the mitochondria and assembled into the functional complex I. While not directly involved in the catalytic activity of the enzyme, NDUFA2 is thought to play a structural role in the complex, contributing to its stability and proper assembly.

The precise function of NDUFA2 is not completely understood, but studies suggest it participates in the overall structural integrity of complex I and potentially influences electron transfer efficiency. Variations or mutations in the NDUFA2 gene can lead to mitochondrial disorders characterized by a range of symptoms, including neurological problems, muscle weakness, and metabolic dysfunction. These disorders often result from impaired complex I activity due to the destabilization or misassembly of the complex. Further research is ongoing to fully elucidate the precise role of NDUFA2 in complex I function and the pathogenesis of associated diseases.