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Publication : Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human.

First Author  White RA Year  1996
Journal  Genomics Volume  33
Issue  1 Pages  131-4
PubMed ID  8617498 Mgi Jnum  J:32424
Mgi Id  MGI:79919 Doi  10.1006/geno.1996.0170
Citation  White RA, et al. (1996) Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human. Genomics 33(1):131-4
abstractText  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. (C) 1996 Academic Press, Inc.
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