Application | Comment | Organism |
---|---|---|
medicine | mutations of the enzyme cause the often-fatal human disease known as E3 deficiency | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
expressed in Escherichia coli | Homo sapiens |
Crystallization (Comment) | Organism |
---|---|
hanging drop vapour diffusion method | Homo sapiens |
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 | Comment | Organism | GeneOntology No. | Textmining |
---|
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Purification (Comment) | Organism |
---|---|
Ni-NTA resin column chromatography and gel filtration | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
dihydrolipoamide + NAD+ | - |
Homo sapiens | lipoamide + NADH + H+ | - |
? |
Subunits | Comment | Organism |
---|---|---|
homodimer | x-ray crystallography | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
dihydrolipoamide dehydrogenase | - |
Homo sapiens |
E3 | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
FAD | - |
Homo sapiens | |
NAD+ | - |
Homo sapiens | |
NADH | - |
Homo sapiens |