White R A, Dowler L L, Angeloni S V, Koeller D M
Section of Genetics, Children's Mercy Hospital, UMKC School of Medicine, Kansas City, Missouri, 64108, USA.
Genomics. 1996 Apr 1;33(1):131-4. doi: 10.1006/geno.1996.0170.
Electron transfer flavoprotein (composed of alpha and beta subunits) is an obligatory electron acceptor for several dehydrogenases and is located in the mitochondrial matrix. Electrons accepted by electron transfer flavoprotein (ETF) are transferred to the main mitochondrial respiratory chain by way of ETF dehydrogenase (ETFDH). In humans, deficiency of ETF or ETFDH leads to glutaric acidemia type II, an inherited metabolic disorder that can be fatal in its neonatal form and is characterized by severe hypoketotic hypoglycemia and acidosis. We used cDNA probes for the Etfdh, Etfb, and Etfa genes to determine localization of these mouse genes to chromosomes 3, 7, and 13.
电子传递黄素蛋白（由α和β亚基组成）是几种脱氢酶的必需电子受体，位于线粒体基质中。电子传递黄素蛋白（ETF）接受的电子通过ETF脱氢酶（ETFDH）转移到主要的线粒体呼吸链。在人类中，ETF或ETFDH的缺乏会导致II型戊二酸血症，这是一种遗传性代谢紊乱疾病，其新生儿形式可能致命，特征是严重的低酮性低血糖和酸中毒。我们使用针对Etfdh、Etfb和Etfa基因的cDNA探针来确定这些小鼠基因在3号、7号和13号染色体上的定位。
