TY - JOUR
T1 - Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13
T2 - The mouse homologs of genes responsible for glutaric acidemia type II in human
AU - White, Robert A.
AU - Dowler, Lisa L.
AU - Angeloni, Stephen V.
AU - Koeller, David M.
N1 - Funding Information:
This work was supported by grants from the Paul Patton Memorial Trust (R.A.W.) and NIH Grants P30 HD04024-27 (NICHD) and P01 HD08315 (NICHD) (D.M.K.).
PY - 1996/4/1
Y1 - 1996/4/1
N2 - Electron transfer flavoprotein (composed of α and β 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.
AB - Electron transfer flavoprotein (composed of α and β 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.
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U2 - 10.1006/geno.1996.0170
DO - 10.1006/geno.1996.0170
M3 - Article
C2 - 8617498
AN - SCOPUS:0029920404
SN - 0888-7543
VL - 33
SP - 131
EP - 134
JO - Genomics
JF - Genomics
IS - 1
ER -