Phenylalanine-4-Hydroxylase

Preferred Label : Phenylalanine-4-Hydroxylase;

NCIt synonyms : Phenylalanine Hydroxylase; EC 1.14.16.1; Phe-4-Monooxygenase; PAH; Phenylalanine 4-Monooxygenase;

NCIt definition : Phenylalanine-4-hydroxylase (452 aa, 52 kDa) is encoded by the human PAH gene. This protein is involved in the conversion of phenylalanine to tyrosine.;

NCI Metathesaurus CUI : CL1927053;

Détails

Origin ID

C204185;

UMLS CUI

C5890890;

OMIM relation
- Phenylalanine hydroxylase [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- Oxidoreductase Gene [NCIt concept]
- PAH Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cytosol [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- Folate Biosynthesis Pathway [NCIt concept]
- Phenylalanine Metabolism Pathway [NCIt concept]
- Phenylalanine, Tyrosine and Tryptophan Biosynthesis Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Amino Acid Metabolic Process [NCIt concept]
- Catabolic Process [NCIt concept]
- Iron Chelation [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

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