Isolation, characterization and structural organization of the gene and pseudogene for the dihydrolipoamide succinyltranferase component of the human 2-oxoglutarate dehydrogenase complex.

二氢硫辛酰胺琥珀酰转移酶是2-酮戊二酸脱氢酶comolex的组成酶。该复合物在生物体的能量生产中起着重要的作用。本研究的目的是分离和结构组织的人二氢硫辛酰胺琥珀酰转移酶的基因和假基因。为此，作为第一步，在1993年，我们分离了人二氢硫辛酰胺琥珀酰转移酶的cDNA，并发现人二氢硫辛酰胺琥珀酰转移酶基因位于染色体14q24.2上，1994年我们分离了人二氢硫辛酰胺琥珀酰转移酶的基因和假基因，并测定了其全序列。二氢硫辛酰胺琥珀酰转移酶基因可能与14号染色体上的家族性阿尔茨海默病有关。

The dihydrolipoamide succinytransferase is a component enzyme of 2-oxoglutarate dehydrogenase comolex. The comlex plays a significant role in the energy production of living organisms.The aim of present study is isolation and structural organization of the gene and pseudogene for the human dihydrolipoamide succinyltransferase. For this purpose, as a first step, in 1993 we isolated the cDNA for the human dihydrolipoamide succinyltransferase and found that the human dihydrolipoamide succinyltransferase gene is located on chromosome 14q24.2-q24.3 and that the pseudogene is located on chromosome 1 at p31.In 1994 we isolated the gene and pseudogene for human dihydrolipoamide succinyltransferase and determined those complete nucleotide sequences. The dihydrolipoamide succinyltransferase gene may by responsible for familial Alzheimer's disease linked to chromosome 14.