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Description for Protein PAH

phenylalanine hydroxylase
4 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
1.14.16.1
KEGG - Orthology:
K00500
KEGG - Pathway(s):
hsa00360; hsa00400; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Phenylalanine-4-hydroxylase; Phe-4-monooxygenase
Approved Symbol:
PAH
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 1
Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • (6r,1'r,2's)-5,6,7,8 Tetrahydrobiopterin(db);
  • 7,8-dihydrobiopterin(db);
  • Beta(2-Thienyl)Alanine(db);
  • Droxidopa(db);
  • Epinephrine(db);
  • L-Phenylalanine(db);
  • Norepinephrine(db);
  • Norleucine(db);
  • Quinonoid 7,8-Tetrahydrobiopterin(db);
  • Tetrahydrobiopterin(db)

    Associated Genetic Diseases:

  • Hyperphenylalaninemia(Pd);
  • Hyperphenylalaninemia, mild(Pd);
  • Hyperphenylalaninemia, non-PKU(Pd);
  • PAH polymorphism(Pd);
  • Phenylketonuria(Pd);
  • Phenylketonuria, Icelandic type(Pd);
  • Phenylketonuria, mild(Pd);
  • Phenylketonuria, Yemenite Jewish type(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 08943 Entrez Gene ID: 5053 OMIM ID: 612349 Swissprot Accession: P00439;