NADH Dehydrogenase 1 Beta Subcomplex 9 (NDUFB9) Human Recombinant Protein

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]

NDUFB9: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in 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. Belongs to the complex I LYR family.

Protein type: EC 1.6.99.3; Oxidoreductase; Energy Metabolism - oxidative phosphorylation; Mitochondrial; EC 1.6.5.3

Chromosomal Location of Human Ortholog: 8q13.3

Cellular Component: mitochondrion; mitochondrial inner membrane; mitochondrial respiratory chain complex I

Molecular Function: NADH dehydrogenase (ubiquinone) activity

Biological Process: cellular metabolic process; sensory perception of sound; mitochondrial electron transport, NADH to ubiquinone

Disease: Mitochondrial Complex I Deficiency