Aliases for NDUFA11 Gene
External Ids for NDUFA11 Gene
Previous GeneCards Identifiers for NDUFA11 Gene
This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
GeneCards Summary for NDUFA11 Gene
NDUFA11 (NADH:Ubiquinone Oxidoreductase Subunit A11) is a Protein Coding gene. Diseases associated with NDUFA11 include Mitochondrial Complex I Deficiency, Nuclear Type 14 and Mitochondrial Complex I Deficiency, Nuclear Type 1. Among its related pathways are GABAergic synapse and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. An important paralog of this gene is ENSG00000267740.
UniProtKB/Swiss-Prot Summary for NDUFA11 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.