NDUFA2
Description
The NDUFA2 gene provides instructions for making a protein called NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, which is part of complex I, the first enzyme complex in the electron transport chain (ETC). This chain is located in the mitochondria, the powerhouses of our cells, where it plays a crucial role in cellular respiration. The ETC converts energy from food into a form that cells can use to function. NDUFA2 is an essential subunit of complex I, contributing to its structural integrity and proper function. Mutations in this gene can lead to a variety of disorders, particularly those affecting the nervous system and muscles.
Associated Diseases
Did you know?
Mutations in the NDUFA2 gene are among the most common causes of Leigh syndrome, a severe neurodegenerative disorder that affects infants and young children.
