Official Full Name
oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
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.
OGDH; oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide); 2-oxoglutarate dehydrogenase, mitochondrial; E1k; OGDC-E1; oxoglutarate decarboxylase; 2-oxoglutarate dehydrogenase complex component E1; oxoglutarate dehydrogenase (succinyl-transferring; oxoglutarate dehydrogenase (succinyl-transferring); OGDC; AKGDH