NDUFAF3( Human )
NADH:ubiquinone oxidoreductase complex assembly factor 3
Alias
2P1|C3orf60|E3-3
This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009].