Aliases for NDUFB9 Gene
External Ids for NDUFB9 Gene
Previous GeneCards Identifiers for NDUFB9 Gene
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]
GeneCards Summary for NDUFB9 Gene
NDUFB9 (NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 9, 22kDa) is a Protein Coding gene. Diseases associated with NDUFB9 include osgood-schlatter's disease and balanitis. Among its related pathways are Metabolism and Alzheimers disease. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.
UniProtKB/Swiss-Prot for NDUFB9 Gene
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