Alpha-ketoglutarate dehydrogenase also known as 2-oxoglutarate dehydrogenase E1 component, mitochondrial is an enzyme that in humans is encoded by the OGDH gene.[1][2][3]
Function
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 CO2 during the citric acid cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor.[3]
Clinical significance
A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia.[3]
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles. [§ 1]
References
Further reading
- Shi Q, Chen HL, Xu H, Gibson GE (2005). "Reduction in the E2k subunit of the alpha-ketoglutarate dehydrogenase complex has effects independent of complex activity". J. Biol. Chem. 280 (12): 10888–96. doi:10.1074/jbc.M409064200. PMID 15649899.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- Reed LJ, Hackert ML (1990). "Structure-function relationships in dihydrolipoamide acyltransferases". J. Biol. Chem. 265 (16): 8971–4. PMID 2188967.
- "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 1998. doi:10.1101/gr.8.11.1097. PMID 9847074.
- Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Koike K (1995). "The gene encoding human 2-oxoglutarate dehydrogenase: structural organization and mapping to chromosome 7p13-p14". Gene 159 (2): 261–6. doi:10.1016/0378-1119(95)00086-L. PMID 7622061.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- McCartney RG, Rice JE, Sanderson SJ, et al. (1998). "Subunit interactions in the mammalian alpha-ketoglutarate dehydrogenase complex. Evidence for direct association of the alpha-ketoglutarate dehydrogenase and dihydrolipoamide dehydrogenase components". J. Biol. Chem. 273 (37): 24158–64. doi:10.1074/jbc.273.37.24158. PMID 9727038.
- van Bever Y, Balemans W, Duval EL, et al. (2007). "Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome". Am. J. Med. Genet. A 143 (7): 763–7. doi:10.1002/ajmg.a.31641. PMID 17343268.
- Habelhah H, Laine A, Erdjument-Bromage H, et al. (2004). "Regulation of 2-oxoglutarate (alpha-ketoglutarate) dehydrogenase stability by the RING finger ubiquitin ligase Siah". J. Biol. Chem. 279 (51): 53782–8. doi:10.1074/jbc.M410315200. PMID 15466852.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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