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
功能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.
疾病相关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.
序列相似性Belongs to the complex I 49 kDa subunit family.