编码α-酮戊二酸脱氢酶复合体E1k亚基的基因（OGDH）定位于7号染色体p13-p11.2区域。
Localization of the gene (OGDH) coding for the E1k component of the alpha-ketoglutarate dehydrogenase complex to chromosome 7p13-p11.2.
作者信息
Szabo P, Cai X, Ali G, Blass J P
机构信息
Department of Medicine, Cornell University Medical College, New York, New York.
出版信息
Genomics. 1994 Mar 15;20(2):324-6. doi: 10.1006/geno.1994.1178.
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.
α-酮戊二酸脱氢酶（E1k），也称为草酰戊二酸脱氢酶（OGDH；EC 1.2.4.2），是一种酶复合物的组成成分，该酶复合物催化α-酮戊二酸转化为琥珀酰辅酶A，这是三羧酸循环中的关键步骤。在阿尔茨海默病患者的大脑和外周细胞中观察到该酶复合物活性不足。这一发现促使我们定位构成α-酮戊二酸脱氢酶复合物（KDGHC）的多肽的基因。利用一对人/啮齿动物体细胞杂交板，将E1k基因座定位到7号染色体p13 - p11.2区域。还鉴定出了第二个相关序列，可能是一个假基因，并将其定位到10号染色体上。
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