|Other Names||NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3, NDUFAF3, C3orf60|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|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||Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).|
|Cellular Location||Nucleus. Mitochondrion inner membrane|
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This gene encodes a mitochondrial complex I assemblyprotein that interacts with complex I subunits. Mutations in thisgene cause mitochondrial complex I deficiency, a fatal neonataldisorder of the oxidative phosphorylation system. Alternativelyspliced transcript variants encoding different isoforms have beenidentified.
Saada, A., et al. Am. J. Hum. Genet. 84(6):718-727(2009)Hammami-Hamza, S., et al. Int. J. Dev. Biol. 47(1):71-76(2003)Simpson, J.C., et al. EMBO Rep. 1(3):287-292(2000)
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