NDUFS2 Antibody – Rabbit Polyclonal

NDUFS2: 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. Defects in NDUFS2 are a cause of mitochondrial complex I deficiency (MT-C1D). 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. Belongs to the complex I 49 kDa subunit family.

Protein type: Mitochondrial; EC 1.6.99.3; EC 1.6.5.3; Oxidoreductase; Energy Metabolism - oxidative phosphorylation

Chromosomal Location of Human Ortholog: 1q23

Cellular Component: nucleoplasm; mitochondrion; mitochondrial inner membrane; mitochondrial respiratory chain complex I

Molecular Function: protein binding; electron carrier activity; NADH dehydrogenase (ubiquinone) activity; metal ion binding; 4 iron, 4 sulfur cluster binding; quinone binding; NAD binding; NADH dehydrogenase activity

Biological Process: cellular metabolic process; mitochondrial electron transport, NADH to ubiquinone; response to oxidative stress

Disease: Mitochondrial Complex I Deficiency