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NDUFS7 is 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.
Gene Name: | NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) |
Synonyms: | NDUFS7, CI-20, CI-20KD, Complex I-20kD, MY017, NADH-coenzyme Q reductase, Complex I 20kDa subunit, PSST, PSST subunit |
Target Sequences: | BC005954 AAH05954.1 O75251 |
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