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Literature summary for 1.8.1.4 extracted from

  • Ambrus, A.; Wang, J.; Mizsei, R.; Zambo, Z.; Torocsik, B.; Jordan, F.; Adam-Vizi, V.
    Structural alterations induced by ten disease-causing mutations of human dihydrolipoamide dehydrogenase analyzed by hydrogen/deuterium-exchange mass spectrometry implications for the structural basis of E3 deficiency (2016), Biochim. Biophys. Acta, 1862, 2098-2109 .
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
gene dld, DNA and amino acid sequence determination and analysis, genotyping Homo sapiens

Protein Variants

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

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
Homo sapiens 5739
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
dihydrolipoamide + NAD+ Homo sapiens
-
lipoamide + NADH + H+
-
r

Organism

Organism UniProt Comment Textmining
Homo sapiens P09622
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
dihydrolipoamide + NAD+
-
Homo sapiens lipoamide + NADH + H+
-
r

Synonyms

Synonyms Comment Organism
dihydrolipoamide dehydrogenase
-
Homo sapiens
DLD
-
Homo sapiens
hE3
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NAD+
-
Homo sapiens
NADH
-
Homo sapiens

General Information

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