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 Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 2, 8kDa) is a Protein Coding gene. Diseases associated with NDUFA2 include orbital cancer and multiple cranial nerve palsy. Among its related pathways are MAPK signaling pathway and Immune System. 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