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Literature summary for 4.1.1.72 extracted from
- Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease (1998), J. Biol. Chem., 273, 13110-13118.
Application
| Application | Comment | Organism |
|---|---|---|
| medicine | naturally occuring mutations cause an impaired assembly of enzyme in patients with maple syrup urine disease | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| N222S-alpha | normal assembly of alpha2beta2 tetramer | Homo sapiens |
| R220W-alpha | normal assembly of alpha2beta2 tetramer | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
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Release 2023.1 (January 2023)
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