NADH dehydrogenase (ubiquinone) Fe S protein 2 49kDa
NADH dehydrogenase (ubiquinone) Fe S protein 2, 49kDa (NADH coenzyme Q reductase)
NADH dehydrogenase [ubiquinone] iron sulfur protein 2, mitochondrial
NADH dehydrogenase [ubiquinone] iron-sulfur protein 2
NADH ubiquinone oxidoreductase 49 kDa subunit
NADH ubiquinone oxidoreductase NDUFS2 subunit
NADH-ubiquinone oxidoreductase 49 kDa subunit
NADH:ubiquinone oxidoreductase core subunit S2
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.
Involvement in disease
Defects in NDUFS2 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.