EC Number   |
General Information |
Reference |
|---|
   2.3.1.61 | malfunction |
enzyme deficient mice show reduced mRNA and protein levels and decreased brain mitochondrial alpha-ketoglutarate dehydrogenase activity (by about 40%), increased vulnerability to mitochondrial toxins: MPTP treatment enhances the severity of lipid peroxidation in the substantial nigra, reduced striatal dopamine (59% depletion in wild-type, 73% in enzyme deficient mutants), dopaminergic neurons (25% reduction in wild-type, 42% in mutants) and tyrosine hydroxylase-positive neurons, striatal lesions induced by malonate (mimicking Huntington's disease, 2fold larger lesions, smaller striatum) or 3-nitropropionic acid (5fold larger lesions than in wild-type) are significantly larger in enzyme deficient mice than in the wild-type, and the 3-nitropropionic acid-induced mitochondrial enzyme inhibition (25% lower citrate synthase activity than in wild-type), protein and DNA oxidation is enhanced in the cortex of enzyme deficient mice compared to wild-type |
705900 |
| 2.3.1.61 | malfunction |
individual overexpression of dihydrolipoamide succinyltransferase, which serves as the inner core of KGDH, decreases overall activity of the enzyme complex, overexpression of mutated DLST not only impairs balanced assembly of KGDH, but also disrupts the catalytic integrity of the enzyme complex |
-, 735521 |
| 2.3.1.61 | malfunction |
loss of dihydrolipoyl succinyltransferase leads to reduced resting heart rate in the zebrafish, enzyme deficiency causes the embryonic lethal, recessive zebrafish mutant schneckentempo ste phenotype. Homozygous ste mutants exhibit a severely reduced resting heart rate with normal atrio-ventricular conduction and contractile function. External electrical pacing reveals that defective excitation generation in cardiac pacemaker cells underlies bradycardia in ste-/- mutants. ATP levels are significantly diminished in ste-/- mutant embryos |
735580 |
| 2.3.1.61 | malfunction |
reduced enzyme activity increases H2O2-induced reactive oxygen species production and cell death, in human Alzheimer disease brains the activity of the alpha-ketoglutarate dehydrogenase enzyme complex is reduced, enzyme deficient mice show increased plaque burden, Abeta oligomers, and nitrotyrosine levels, the occurrence of spatial learning and memory deficits in female Tg19959 mice is accelerated |
703808 |
| 2.3.1.61 | metabolism |
dihydrolipoyl succinyltransferase catalyzes the citric acid cycle within the 2-oxoglutarate dehydrogenase complex |
735580 |
| 2.3.1.61 | more |
the catalytic reaction of the enzyme depend on active site residues His419 and Asp423 |
-, 735521 |
| 2.3.1.61 | physiological function |
enzyme overexpression in wild type mice protects against cardiac hypertrophy and dysfunction in vivo |
756495 |
| 2.3.1.61 | physiological function |
isolated isoform AceF has solely transacetylase activity and no transsuccinylase activity. Oxoglutarate dehydrogenase complex OdhA specifically converts 2-oxoglutarate to succinyl-coenzyme A but fully relies on the lipoyl residues provided by AceF involved in the reactions to convert pyruvate to acetyl-CoA. Presence of isoform AceF is required for both oxoglutarate dehydrogenase and pyruvate dehydrogenase activity |
719719 |
| 2.3.1.61 | physiological function |
key subunit of the alpha-ketoglutarate dehydrogenase enzyme complex, involved in NADH production, participation in oxidative stress and reactive oxygen species (ROS) production |
703808 |
| 2.3.1.61 | physiological function |
subunit of the alpha-ketoglutarate dehydrogenase complex |
705900 |
