Aliases for NDUFA2 Gene
External Ids for NDUFA2 Gene
Previous GeneCards Identifiers for NDUFA2 Gene
The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
GeneCards Summary for NDUFA2 Gene
NDUFA2 (NADH:Ubiquinone Oxidoreductase Subunit A2) is a Protein Coding gene. Diseases associated with NDUFA2 include leigh syndrome and leigh syndrome with leukodystrophy. Among its related pathways are Metabolism and A-beta Pathways: Uptake and Degradation. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.
UniProtKB/Swiss-Prot for NDUFA2 Gene
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be 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.