Product details
Background：
The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase) . Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions , including lethal neonatal disease , hypertrophic cardiomyopathy , liver disease , and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five , seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq , Jul 2015] ,
