Description
Product Characteristics:
Located in the mitochondrial inner membrane, mitochondrial complex I is the first and largest enzyme in the electron transport chain of oxidative phosphorylation. By oxidizing NADH that is produced in the Krebs cycle, this complex utilizes the two electrons to reduce ubiquinone to ubiquinol, thereby initiating the passage of electrons to successive complexes and ultimately leading to the reduction of oxygen to water. Mitochondrial complex I consists of over 40 subunits and is of considerable clinical interest since defects in any of the subunits can lead to various myopathies and neuropathies. As a subunit of mitochondrial complex I, NDUFS7 (NADH dehydrogenase [ubiquinone] iron-sulfur protein 7), also designated NADH-ubiquinone oxidoreductase 20 kDa subunit, is a 213 amino acid protein that is suggested to be required for catalytic activity. Defects in the gene encoding NDUFS7 are the cause of Leigh syndrome, a severe neurological disorder that is characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions.
Subcellular location: Cytoplasm
Synonyms: CI 20, CI-20kD, Complex I 20 kDa subunit, Complex I mitochondrial respiratory chain 20 KD subunit, Complex I-20kD, MGC120002, MY017, NADH coenzyme Q reductase, NADH dehydrogenase ubiquinone Fe S protein 7 20 kDa NADH coenzyme Q reductase, NADH dehydrogenase ubiquinone FeS protein 7, 20 kDa NADHcoenzyme Q reductase, NADH dehydrogenase ubiquinone FeS protein7, 20 kDa NADHcoenzyme Q reductase, NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial, NADH-ubiquinone oxidoreductase 20 kDa subunit, NADH:ubiquinone oxidoreductase PSST subunit, NADHcoenzyme Q reductase, Ndufs7, NDUS7_HUMAN, PSST, PSST subunit.
Target Information: 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]