PAH Gene Summary [Human]
This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]
Details
| Type | Protein Coding |
| Official Symbol | PAH |
| Official Name | phenylalanine hydroxylase [Source:HGNC Symbol;Acc:HGNC:8582] |
| Ensembl ID | ENSG00000171759 |
| Bio databases IDs | |
| Aliases | phenylalanine hydroxylase, phenylalanine 4-monooxygenase |
| Synonyms | LOC101929036, Monooxygenase, PH, phenylalanine hydroxylase, PKU, PKU1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PAH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- regulatory domain
- catalytic domain
- tyrosine 3-monooxygenase, tetrameric
- iron ion binding
- enzyme
- identical protein binding
- ACT domain
- Biopterin-dependent aromatic amino acid hydroxylase
- amino acid binding
- arom_aa_hydroxylase
- phenylalanine 4-monooxygenase
- tryptophan 5-monooxygenase, tetrameric
- phenylalanine-4-hydroxylase, tetrameric form
- hinge domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- classical phenylketonuria
- hyperphenylalaninemia
- phenylketonuria
- atypical femur fracture
- diabetes mellitus
- hereditary disorder
- 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
- progressive familial intrahepatic cholestasis type 1
- liver cancer
- tetrahydrobiopterin deficiency
regulates
- L-glutamic acid
- L-phenylalanine
- PAH
- L-tryptophan
- 5-hydroxytryptophan
- glutamine
- quinolinic acid
- L-tyrosine
- neutral amino acid
- creatine
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PAH gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- tyrosine biosynthetic process, by oxidation of phenylalanine
- L-phenylalanine catabolic process
- tyrosine biosynthetic process
- cellular amino acid biosynthetic process
- catecholamine biosynthetic process
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- iron ion binding
- phenylalanine 4-monooxygenase activity