NDUFS4 (NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial)

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NDUFS4 (NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial) also known as NADH-ubiquinone oxidoreductase 18 kDa subunit is an enzyme that in humans is encoded by the NDUFS4 gene. The gene encodes a nuclear coding helper subunit of mitochondrial membrane respiratory chain NADH dehydrogenase (complex I or NADH: ubiquinone oxidoreductase). Complex I removes electrons from NADH and transfers them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial type I defects, such as Leigh syndrome. This defect is the most common enzymatic defect in oxidative phosphorylation diseases.

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