Synonyms: AQDQ,CI 18,CI 18 kDa,CI AQDQ,CI-18 kDa,CI-AQDQ,Complex I 18 kDa,Complex I AQDQ,Complex I-18 kDa,Complex I-AQDQ,mitochondrial,mitochondrial respiratory chain complex I (18 KD subunit),NADH coenzyme Q reductase,NADH dehydrogenase (ubiquinone) Fe S protein 4 18 kDa,NADH dehydrogenase [ubiquinone] iron-sulfur protein 4,NADH dehydrogenase,NADH ubiquinone oxidoreductase 18 kDa subunit,NADH-ubiquinone oxidoreductase 18 kDa subunit,NDUFS4,NDUS4
Background: This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants.