NDUFAF3, Official Symbol NDUFAF3provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase complex assembly factor 3provided by HGNC Primary source HGNC:HGNC:29918 See related Ensembl:ENSG00000178057 MIM:612911; AllianceGenome:HGNC:29918 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 2P1; E3-3; C3orf60; MC1DN18 Summary 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] Expression Broad expression in testis (RPKM 52.4), fat (RPKM 20.6) and 24 other tissues See more Orthologs mouse all