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Official Full Name
NADH dehydrogenase (ubiquinone) flavoprotein 1
The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinsons disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
NDUFV1; NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa; NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD); NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial; CI 51K; complex I 51kDa subunit; NADH dehydrogenase [ubiquinone] flavoprotein 1; mitochondrial; CI 51kD; CI-51kD; Complex I 51kD; Complex I-51kD; FLJ59059; NADH dehydrogenase (ubiquinone) flavoprotein 1; NADH dehydrogenase flavoprotein 1; NADH ubiquinone oxidoreductase 51 kDa subunit; NADH ubiquinone oxidoreductase; NADH-ubiquinone oxidoreductase 51 kDa subunit; NDUFV 1; NDUV1_HUMAN; UQOR1; OTTHUMP00000232178; OTTHUMP00000232181; OTTHUMP00000232183; OTTHUMP00000232187; complex I 51 kda subunit; complex I, mitochondrial respiratory chain; NADH-ubiquinone oxidoredu; CI-51K; CI51KD; mitochondrial NADH dehydrogenase ubiquinone flavoprotein 1; mitochondrial NADH:ubiquinone oxidoreductase 51 kda subunit; NADH dehydrogenase ubiquinone flavoprotein 1; zgc:86620; wu:fc01f01; wu:fc12f12