- Localization of the gene (OGDH) coding for the E1k component of the alpha-ketoglutarate dehydrogenase complex to chromosome 7p13-p11.2.
Localization of the gene (OGDH) coding for the E1k component of the alpha-ketoglutarate dehydrogenase complex to chromosome 7p13-p11.2.
Genomics (1994-03-15)
P Szabo, X Cai, G Ali, J P Blass
PMID8020988
RESUMEN
alpha-Ketoglutarate dehydrogenase (E1k), also designated oxoglutarate dehydrogenase (OGDH; EC 1.2.4.2), is a component of the enzyme complex that catalyzes the conversion of alpha-ketogluterate to succinyl coenzyme A, a critical step in the Krebs tricarboxylic acid cycle. Deficiencies in the activity of this enzyme complex have been observed in brain and peripheral cells of patients with Alzheimer's disease. This finding led us to localize the genes for the polypeptides that compose the alpha-ketoglutarate dehydrogenase complex (KDGHC). The E1k locus was mapped to chromosome 7p13-p11.2 using a pair of human/rodent somatic cell hybrid panels. A second related sequence, possibly a pseudogene, was identified and mapped to chromosome 10.