Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.
Glutaric acidemia type II is a human inborn error of metabolism which can be due to defects in either subunit of electron transfer flavoprotein (ETF) or in ETF:ubiquinone oxidoreductase (ETF:QO), but few disease-causing mutations have been described. The ETF:QO gene is located on 4q33, and contains 13 exons. Primers to amplify these exons are presented, together with mutations identified by molecular analysis of 20 ETF:QO-deficient patients. Twenty-one different disease-causing mutations were identified on 36 of the 40 chromosomes.
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000201:enzymology* / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D044927:Electron-Transferring Flavoproteins; D005091:Exons; D044943:Fatty Acid Desaturases / Q000172:deficiency* / Q000235:genetics*; D005838:Genotype; D005977:Glutarates / Q000097:blood*; D006801:Humans; D007438:Introns; D007506:Iron-Sulfur Proteins; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood / Q000201:enzymology* / Q000235:genetics*; D009097:Multienzyme Complexes / Q000172:deficiency* / Q000235:genetics*; D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors; D010641:Phenotype
D018076:DNA, Complementary; D044927:Electron-Transferring Flavoproteins; D005977:Glutarates; D007506:Iron-Sulfur Proteins; D009097:Multienzyme Complexes; D044943:Fatty Acid Desaturases; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase; C035736:glutaric acid