NDUFAF1, Official Symbol NDUFAF1provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase complex assembly factor 1provided by HGNC Primary source HGNC:HGNC:18828 See related Ensembl:ENSG00000137806 MIM:606934; AllianceGenome:HGNC:18828 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 CGI65; CIA30; CGI-65; MC1DN11 Summary This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in adrenal (RPKM 10.5), testis (RPKM 9.8) and 25 other tissues See more Orthologs mouse all