Entrez gene ID | | 4967 |
Official gene symbol | | OGDH |
Full name | | oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) |
Aliases | | ,AKGDH,E1k,OGDC, |
Gene 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. |
Location | | Chromosome: 7 Locus: 7p14-p13 |
Gene position | | 44646121 - 44748669 Map Viewer |
Gene orientation | | plus |
Gene size | | 102549 bp |
Gene sequence |
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OMIM ID | | 613022 |
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