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Literature summary extracted from

  • Brautigam, C.A.; Chuang, J.L.; Tomchick, D.R.; Machius, M.; Chuang, D.T.
    Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations (2005), J. Mol. Biol., 350, 543-552.
    View publication on PubMed

Application

EC Number Application Comment Organism
1.8.1.4 medicine mutations of the enzyme cause the often-fatal human disease known as E3 deficiency Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.8.1.4 expressed in Escherichia coli Homo sapiens

Crystallization (Commentary)

EC Number Crystallization (Comment) Organism
1.8.1.4 hanging drop vapour diffusion method Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.8.1.4 D444V pathogenic mutation, diminishing the ability of E3 to homodimerize Homo sapiens
1.8.1.4 E340K pathogenic mutation, diminishing the ability of E3 to homodimerize Homo sapiens
1.8.1.4 G194C mutation affecting the ability of FAD, NAD+, or NADH to bind to E3 Homo sapiens
1.8.1.4 I358T mutation affecting the ability of FAD, NAD+, or NADH to bind to E3 Homo sapiens
1.8.1.4 K37E mutation affecting the ability of FAD, NAD+, or NADH to bind to E3 Homo sapiens
1.8.1.4 M326V mutation affecting the ability of FAD, NAD+, or NADH to bind to E3 Homo sapiens
1.8.1.4 additional information deletion mutant DELTAG101 causes E3 deficiency Homo sapiens
1.8.1.4 P453L causes E3 deficiency Homo sapiens
1.8.1.4 R460G pathogenic mutation, diminishing the ability of E3 to homodimerize Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining

Organism

EC Number Organism UniProt Comment Textmining
1.8.1.4 Homo sapiens
-
-
-

Purification (Commentary)

EC Number Purification (Comment) Organism
1.8.1.4 Ni-NTA resin column chromatography and gel filtration Homo sapiens

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.8.1.4 dihydrolipoamide + NAD+
-
 Homo sapiens lipoamide + NADH + H+
-
 ?

Subunits

EC Number Subunits Comment Organism
1.8.1.4 homodimer x-ray crystallography Homo sapiens

Synonyms

EC Number Synonyms Comment Organism
1.8.1.4 dihydrolipoamide dehydrogenase
-
 Homo sapiens
1.8.1.4 E3
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.8.1.4 FAD
-
 Homo sapiens
1.8.1.4 NAD+
-
 Homo sapiens
1.8.1.4 NADH
-
 Homo sapiens