EC Number   |
General Information |
Reference |
|---|
    1.5.5.1 | malfunction |
a small number of conidia are formed by ETF and ETFDH deletion mutants growing on different media, the conidial germination and appressoria formation on hydrophobic surface do not show any variations compared to the wild-type. Sprayed onto live barley and rice seedlings, the mutant conidia are almost completely non-pathogenic, despite producing a few non-extended necroses on the host surface. ETF and ETFDH mutants display growth and conidiation defects. ETF mutant etfb- cells exhibit reduced turgor pressure in 2-4 M glycerol, reduced ATP synthesis, and the ETF mutant etfb- is more sensitive to host oxidative stress (by H2O2 in host cells). ETF mutant etfb- shows lipid body accumulation. Phenotypes, overview |
743809 |
| 1.5.5.1 | malfunction |
defects in human electron transfer flavoprotein or ETF-QO result in a metabolic disease known as multiple acyl-CoA dehydrogenation deficiency (MADD) or glutaric acidemia type 2. Death within the neonatal period occurs if the defects are severe |
726447 |
| 1.5.5.1 | malfunction |
deficiency of ETF or ETFDH leads to dysfunction of acyl-CoA dehydrogenase, resulting in accumulation of long- and medium-chain fatty acids. Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II, MADD) occurs due to a mutation of electron transfer flavoprotein-dehydrogenase in a cat, that presented with symptoms characteristic of MADD including hypoglycemia, hyperammonemia, vomiting, diagnostic organic aciduria, and accumulation of medium- and long-chain fatty acids in plasma, phenotype, overview |
743186 |
| 1.5.5.1 | malfunction |
deficiency of ETF or ETFDH leads to dysfunction of acyl-CoA dehydrogenase, resulting in accumulation of long- and medium-chain fatty acids. Multiple acyl-CoA dehydrogenation deficiency (MADD) occurs due to mutations of electron transfer flavoprotein-dehydrogenase, including c.250G>A, c.380T>A, c.770A>G, c.1601C>T, and c.524G>A. Lipid storage myopathy (LSM) is a genetically heterogeneous group with variable clinical phenotypes. Late-onset multiple acyl-coenzyme A dehydrogenation deficiency (MADD) is a rather common form of LSM in China, phenotypewith neuromuscular disorders, overview |
742306 |
| 1.5.5.1 | malfunction |
depletion of enzyme ETFDH leads to growth inhibition in Burkholderia cenocepacia. In the DELTAetfdh2 mutant strain, growth is unaffected as long as gene etfdh1 is expressed, but falls to 13% of wild-type activity in the absence of rhamnose, suggesting that gene etfdh2 partially complements gene etfdh1. The morphology seen when EtfAB or ETF dehydrogenase is depleted is not due to a general defect of respiration |
-, 743249 |
| 1.5.5.1 | malfunction |
enzyme deficiency can cause multiple acyl-CoA dehydrogenase deficiency, MADD. The inability to oxidize fatty acids prevents the synthesis of ketone bodies, an essential alternate energy source for the heart. Affected individuals frequently die in early infancy with a severe, frequently fatal, metabolic acidosis that is often accompanied by a stress-induced hypertrophic cardiomyopathy and lipid accumulation in the heart, and secondary carnitine deficiency |
724410 |
| 1.5.5.1 | malfunction |
ETF:QO mutant alleles faileto identify developmental defects, but a complete dysfunction of the ETF:QO protein leads to abnormal mitochondrial fatty acid oxidation. Acylcarnitine levels in ETF:QO mutant embryos display a profile typical of MADD, i.e. multiple acyl-CoA dehydrogenase deficiency, a metabolic disease of bet-oxidation, with a broad range of clinical phenotypes, varying from embryonic lethal to mild forms in humans. Fly mutant phentypes, overview |
724446 |
| 1.5.5.1 | malfunction |
evaluations of the mutant phenotypes following carbon starvation induced by extended darkness identify similarities to those exhibited by mutants of the ETF/ETFQO complex, metabolic profiling, overview |
713271 |
| 1.5.5.1 | malfunction |
impairment of lysine-specific reduction of ETF reduces the ability of AtETF to mediate electron transfer between ETF-dependent dehydrogenases and ETF-QO |
-, 742902 |
| 1.5.5.1 | malfunction |
multiple acyl-coenzyme A dehydrogenase deficiency (MADD), also known as glutaric acidemia type 2 (GA2), is a rare autosomal recessive disorder whose biochemical abnormalities result from a deficiency of one of the two electron transfer flavoproteins (ETF and ETFDH) that transfer electrons from acyl-CoA dehydrogenases to the respiratory chain. Bezafibrate (BEZ) is a hypolipidemic drug that is as an agonist of the peroxisome proliferating activator receptor, and is beneficial in Japanese children with ETFDH gene mutations exhibiting GA2. BEZ, L-carnitine, and riboflavin each show partial effectiveness and produce partial remission in a patient with GA2. The disorder affects multiple metabolic pathways involving branched amino acids, fatty acids, and tryptophan, and results in a variety of distinctive organic acids being discharged. The heterogeneous clinical features of patients with GA2 fall into three subclasses: two neonatal-onset forms (types I/ II) and a late-onset form (type III), phenotypes, overview |
743132 |
