NDUFB9

Chr 8AR

NADH:ubiquinone oxidoreductase subunit B9

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

NCBI Gene: 4715 ENSG00000147684 UniProt: Q9Y6M9 OMIM: 601445

The protein is an accessory subunit of mitochondrial complex I (NADH dehydrogenase) that functions in electron transfer from NADH to ubiquinone in the respiratory chain. Mutations cause mitochondrial complex I deficiency with autosomal recessive inheritance, though the specific clinical phenotype associated with NDUFB9 mutations remains uncertain. Complex I deficiencies typically present with variable manifestations including neonatal disease, cardiomyopathy, liver disease, and neurodegenerative disorders.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…