NDUFA12, Official Symbol NDUFA12provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A12provided by HGNC Primary source HGNC:HGNC:23987 See related Ensembl:ENSG00000184752 MIM:614530; AllianceGenome:HGNC:23987 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 B17.2; DAP13; MC1DN23 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] Expression Ubiquitous expression in heart (RPKM 72.7), colon (RPKM 50.9) and 25 other tissues See more Orthologs mouse all