ACADM, Official Symbol ACADMprovided by HGNC Official Full Name acyl-CoA dehydrogenase medium chainprovided by HGNC Primary source HGNC:HGNC:89 See related Ensembl:ENSG00000117054 MIM:607008; AllianceGenome:HGNC:89 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 MCAD; ACAD1; MCADH Summary This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 85.4), heart (RPKM 68.4) and 25 other tissues See more Orthologs mouse all