{"symbol":"ACADM","synonyms":["MCADH","ACAD1","MCAD"],"name":"acyl-CoA dehydrogenase, C-4 to C-12 straight chain","description":"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]","ncbiEntrezGeneId":34,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/34","proteins":[{"symbol":"ACADM_HUMAN","href":"/api/1.0/protein/ACADM_HUMAN"}],"hgncRootFamilies":[]}