Ndufaf3 - NADH:ubiquinone oxidoreductase complex assembly factor 3

This gene encodes a protein that is required for assembly of mitochondrial NADH: ubiquinone oxidoreductase complex I, a multiprotein enzyme complex that is part of the oxidative phosphorylation pathway. In humans, mutations in this gene are associated with fatal neonatal mitochondrial disease and lactic acidosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]