Aliases for NDUFA12 Gene
External Ids 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 Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 12) is a Protein Coding gene. Diseases associated with NDUFA12 include orbital cancer and placenta praevia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and NADH dehydrogenase activity.
UniProtKB/Swiss-Prot 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