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Literature summary for 1.8.1.4 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

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

Cloned(Commentary)

Cloned (Comment) Organism
expressed in Escherichia coli Homo sapiens

Crystallization (Commentary)

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

Protein Variants

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

Localization

Localization Comment Organism GeneOntology No. Textmining

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Purification (Commentary)

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

Substrates and Products (Substrate)

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

Subunits

Subunits Comment Organism
homodimer x-ray crystallography Homo sapiens

Synonyms

Synonyms Comment Organism
dihydrolipoamide dehydrogenase
-
Homo sapiens
E3
-
Homo sapiens

Cofactor

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