Activating Compound | Comment | Organism | Structure |
---|---|---|---|
thiamine diphosphate | - |
Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
F364C | E1alpha-missense mutation in type IA maple syrup urine disease that causes the occurence of exclusively alpha,beta dimers | Homo sapiens |
T265R | missense mutation in type IA maple syrup urine disease that causes the occurence of both alpha2beta2 tetramers and lower molecular weight species | Homo sapiens |
Y368C | missense mutation in type IA maple syrup urine disease that causes the occurence of both alpha2beta2 tetramers and lower molecular weight species | Homo sapiens |
Y393N | E1alpha-missense mutation in type IA maple syrup urine disease that causes the occurence of exclusively alpha,beta dimers | Homo sapiens |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
37500 | - |
alpha2,beta2, 2 * 45500 + 2 * 37500, wild-type enzyme, SDS-PAGE | Homo sapiens |
45500 | - |
alpha2,beta2, 2 * 45500 + 2 * 37500, wild-type enzyme, SDS-PAGE | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | patients with type IA maple syrup urine disease show missense mutations in the E1 alpha-subunit resulting in the loss of E1 and branched-chain ketoacid dehydrogenase activity | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | patients with type IA maple syrup urine disease show missense mutations in the E1 alpha-subunit resulting in the loss of E1 and branched-chain ketoacid dehydrogenase activity | Homo sapiens | ? | - |
? |
Subunits | Comment | Organism |
---|---|---|
More | Y368C-alpha and T265R-alpha: missense mutation that cause the occurence of both alpha2beta2 tetramers and lower molecular weight species | Homo sapiens |
More | Y393N-alpha and F364C-alpha: E1alpha-missense mutation that causes the occurence of exclusively alpha,beta dimers | Homo sapiens |
tetramer | alpha2,beta2, 2 * 45500 + 2 * 37500, wild-type enzyme, SDS-PAGE | Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
CoA | - |
Homo sapiens | |
NAD+ | - |
Homo sapiens |