Entrez Summary: 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].
UniProt Summary: 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. {ECO:0000269|PubMed:27626371}.
Pfam DomainsGO Terms
Pfam Domains
NDUFA12
GO Terms
respiratory gaseous exchange by respiratory system
NADH dehydrogenase (ubiquinone) activity
mitochondrial electron transport, NADH to ubiquinone
mitochondrial respiratory chain complex I
NADH dehydrogenase complex assembly
mitochondrial respiratory chain complex I assembly
electron transfer activity
mitochondrial ATP synthesis coupled electron transport
ATP synthesis coupled electron transport
mitochondrial respiratory chain complex assembly
respiratory electron transport chain
oxidative phosphorylation
cellular respiration
electron transport chain
ATP metabolic process
energy derivation by oxidation of organic compounds
response to oxidative stress
mitochondrial inner membrane
generation of precursor metabolites and energy
mitochondrion organization
cellular protein-containing complex assembly
oxidation-reduction process
mitochondrion
phosphorylation
protein-containing complex assembly
protein-containing complex subunit organization
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)