NDUFS7 Antibody – Rabbit Polyclonal

This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]

NDUFS7: 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 NDUFS7 are a cause of Leigh syndrome (LS). LS is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions. Defects in NDUFS7 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 20 kDa subunit family.

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

Chromosomal Location of Human Ortholog: 19p13.3

Cellular Component: neuron projection; cell soma; mitochondrial inner membrane; mitochondrial respiratory chain complex I

Molecular Function: oxidoreductase activity, acting on NADH or NADPH, quinone or similar compound as acceptor; protein binding; NADH dehydrogenase (ubiquinone) activity; protease binding; 4 iron, 4 sulfur cluster binding; metal ion binding; quinone binding; NADH dehydrogenase activity

Biological Process: mitochondrial respiratory chain complex I assembly; cellular metabolic process; mitochondrial electron transport, NADH to ubiquinone

Disease: Leigh Syndrome