NDUFA2, Official Symbol NDUFA2provided by HGNC Official Full Name NADH:ubiquinone oxidoreductase subunit A2provided by HGNC Primary source HGNC:HGNC:7685 See related Ensembl:ENSG00000131495 MIM:602137; AllianceGenome:HGNC:7685 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 B8; CD14; CIB8; MC1DN13 Summary The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] Expression Ubiquitous expression in kidney (RPKM 47.3), fat (RPKM 36.0) and 25 other tissues See more Orthologs mouse all