|Other Names||NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial, Complex I-51kD, CI-51kD, NADH dehydrogenase flavoprotein 1, NADH-ubiquinone oxidoreductase 51 kDa subunit, NDUFV1, UQOR1|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||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 (By similarity).|
|Cellular Location||Mitochondrion inner membrane; Peripheral membrane protein; Matrix side|
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The mitochondrial respiratory chain provides energy tocells via oxidative phosphorylation and consists of fourmembrane-bound electron-transporting protein complexes (I-IV) andan ATP synthase (complex V). This gene encodes a 51 kDa subunit ofthe NADH:ubiquinone oxidoreductase complex I; a large complex withat least 45 nuclear and mitochondrial encoded subunits thatliberates electrons from NADH and channels them to ubiquinone. Thissubunit carries the NADH-binding site as well as flavinmononucleotide (FMN)- and Fe-S-biding sites. Defects in complex Iare a common cause of mitochondrial dysfunction; a syndrome thatoccurs in approximately 1 in 10,000 live births. Mitochondrialcomplex I deficiency is linked to myopathies, encephalomyopathies,and neurodegenerative disorders such as Parkinson's disease andLeigh syndrome. Alternative splicing results in multiple transcriptvariants encoding distinct isoforms.
Wang, W., et al. Nucleic Acids Res. (2010) In press :Moran, M., et al. Biochim. Biophys. Acta 1802(5):443-453(2010)Saito, A., et al. J. Hum. Genet. 54(6):317-323(2009)Starr, J.M., et al. Mech. Ageing Dev. 129(12):745-751(2008)Ben-Shachar, D., et al. PLoS ONE 2 (9), E817 (2007) :
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