Cloned (Comment) | Organism |
---|---|
gene dld, DNA and amino acid sequence determination and analysis, genotyping | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
D444V | naturally occuring mutation, the mutation significantly stimulates ROS generation of the mutant enzyme, the mutation triggers the oxidative deterioration of the lipoic acid cofactors of both PDHc-E2 and KGDHc-E2 in a yeast model and leads to a great reduction in the respiratory function of the yeast cells | Homo sapiens |
DELTAG101 | naturally occuring mutation, the mutation is involved in E3 deficiency | Homo sapiens |
E340K | naturally occuring mutation, the mutation significantly stimulates ROS generation of the mutant enzyme, the mutation triggers the oxidative deterioration of the lipoic acid cofactors of both PDHc-E2 and KGDHc-E2 in a yeast model and leads to a great reduction in the respiratory function of the yeast cells. The mutant shows greatly enhanced exposure or dynamics of the C-terminus (fragments 465-474, 469-474) | Homo sapiens |
G194C | naturally occuring mutation, the mutation significantly stimulates ROS generation of the mutant enzyme, the mutation triggers the oxidative deterioration of the lipoic acid cofactors of both PDHc-E2 and KGDHc-E2 in a yeast model and leads to a great reduction in the respiratory function of the yeast cells | Homo sapiens |
G426E | naturally occuring mutation, the mutation is involved in E3 deficiency | Homo sapiens |
I12T | naturally occuring mutation, the mutation is involved in E3 deficiency | Homo sapiens |
I318T | naturally occuring mutation, the substitution triggers major structural disturbance only at the C-terminus | Homo sapiens |
I445M | naturally occuring mutation, the mutant shows greatly enhanced exposure or dynamics of the C-terminus (fragments 465-474, 469-474) | Homo sapiens |
M326V | naturally occuring mutation, the mutation is involved in E3 deficiency | Homo sapiens |
P453L | naturally occuring mutation, the mutation significantly stimulates ROS generation of the mutant enzyme, the mutation triggers the oxidative deterioration of the lipoic acid cofactors of both PDHc-E2 and KGDHc-E2 in a yeast model and leads to a great reduction in the respiratory function of the yeast cells. The mutant shows greatly enhanced exposure or dynamics of the C-terminus (fragments 465-474, 469-474) | Homo sapiens |
R447G | naturally occuring mutation, the mutant shows greatly enhanced exposure or dynamics of the C-terminus (fragments 465-474, 469-474) | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
dihydrolipoamide + NAD+ | Homo sapiens | - |
lipoamide + NADH + H+ | - |
r |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P09622 | - |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
dihydrolipoamide + NAD+ | - |
Homo sapiens | lipoamide + NADH + H+ | - |
r |
Synonyms | Comment | Organism |
---|---|---|
dihydrolipoamide dehydrogenase | - |
Homo sapiens |
DLD | - |
Homo sapiens |
hE3 | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
NAD+ | - |
Homo sapiens | |
NADH | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | pathogenic amino acid substitutions of the common E3 component (hE3) of the human 2-oxoglutarate dehydrogenase and the pyruvate dehydrogenase complexes lead to severe metabolic diseases (E3 deficiency), which usually manifest themselves in cardiological and/or neurological symptoms and often cause premature death. Determination of structural alterations induced by ten disease-causing mutations of human dihydrolipoamide dehydrogenase involved in E3 deficiency, using hydrogen/deuterium-exchange mass spectrometry | Homo sapiens |
physiological function | the enzyme, as the E3 component of the pyruvate decarboxylase complex, has reactive oxygen species generating activity | Homo sapiens |