Gene Symbol | OGDH |
Entrez Gene ID | 4967 |
Full Name | oxoglutarate dehydrogenase |
Synonyms | AKGDH,E1k,OGDC |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1) |