| Dataset | Reactome Pathways 2024 |
| Category | structural or functional annotations |
| Type | pathway |
| Description | An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. (Human Disease Ontology, DOID_9281) |
| External Link | https://reactome.org/PathwayBrowser/#/R-HSA-2160456 |
| Similar Terms | |
| Downloads & Tools |
1 proteins participating in the Phenylketonuria pathway from the Reactome Pathways 2024 dataset.
| Symbol | Name |
|---|---|
| PAH | phenylalanine hydroxylase |
