| Gene Symbol | PAH |
| Chromosome | 12q23.2 |
| Protein Type | Gene |
| Function | PAH catalyzes the hydroxylation of phenylalanine to tyrosine |
| Primary Expression | the liver but is also expressed in the kidney and brain |
| Amino Acids | 527 aa |
| Pathways | Apoptosis |
| GeneCards | PAH |
| Human Protein Atlas | PAH |
| Gene | PAH (chromosome 12q23.2) |
| Protein Class | BH4-dependent aromatic amino acid monooxygenase |
| Protein Size | 527 amino acids |
| Primary Localization | Cytoplasm (primarily liver) |
| Cofactor Requirement | Tetrahydrobiopterin (BH4), iron |
| Disease Associations | Phenylketonuria (PKU), hyperphenylalaninemia, variant forms |
| Associated Diseases | Aging, Als, Alzheimer, Atherosclerosis, Autism |
| Interactions | ABCC8, AND, APAF1, APOPTOSIS, CALR, CANCER |
| KG Connections | 203 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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