{"symbol":"OGDH","synonyms":["E1K","AKGDH","OGDC"],"name":"oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)","description":"This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]","ncbiEntrezGeneId":4967,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/4967","proteins":[{"symbol":"ODO1_HUMAN","href":"/api/1.0/protein/ODO1_HUMAN"}],"hgncRootFamilies":[]}