Aliases for NDUFA12 Gene
External Ids for NDUFA12 Gene
Previous GeneCards Identifiers for NDUFA12 Gene
This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
GeneCards Summary for NDUFA12 Gene
NDUFA12 (NADH:Ubiquinone Oxidoreductase Subunit A12) is a Protein Coding gene. Diseases associated with NDUFA12 include Mitochondrial Complex I Deficiency, Nuclear Type 23 and Leigh Syndrome With Leukodystrophy. Among its related pathways are GABAergic synapse and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include electron transfer activity and NADH dehydrogenase (ubiquinone) activity.
UniProtKB/Swiss-Prot Summary for NDUFA12 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.