Full name: NADH:ubiquinone oxidoreductase subunit B9

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: B22; CI-B22; LYRM3; MC1DN24; UQOR22

Summary: 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]

Expression: Ubiquitous expression in heart (RPKM 119.4), kidney (RPKM 111.6) and 25 other tissues

Gene size: 10857bp

Exon count: 4