NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial (NDUFS2)

NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial (NDUFS2), is a **core subunit of mitochondrial complex I**, the first and largest enzyme complex in the respiratory electron transport chain. As an enzyme, it catalyzes the transfer of electrons from NADH to ubiquinone, coupled to proton translocation across the inner mitochondrial membrane, which is crucial for ATP synthesis. NDUFS2 is essential for both the catalytic activity and the structural assembly of complex I. Mutations in NDUFS2 are associated with a spectrum of severe mitochondrial disorders, including mitochondrial complex I deficiency, Leigh syndrome, Leber hereditary optic neuropathy, and other multisystem diseases. There are **no currently approved drugs** that target NDUFS2 selectively; however, general complex I inhibitors (such as rotenone) act at the level of this enzymatic complex without specificity for NDUFS2. The gene plays a *key role in cellular energy metabolism and is implicated in oxygen sensing in specialized tissues such as the carotid body*.

Other names

NADH:ubiquinone oxidoreductase core subunit S2Complex I 49kDa subunitNADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)CI-49CI-49kDLHONAR2MC1DN6NADH-ubiquinone oxidoreductase 49 kDa subunitNADH-ubiquinone oxidoreductase NDUFS2 subunit

Inhibition of mitochondrial complex I, leading to impaired electron transport and ATP synthesis Disruption of redox balance and mitochondrial membrane potential, leading to impaired cellular metabolism