Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PAH contributors: npt/mct - updated : 18-01-2011
HGNC name phenylalanine hydroxylase
HGNC id 8582
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • from the N terminus a regulatory, a catalytic and a tetramerization domains
  • one ACT domain
  • one small ligand binding domain
    • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Pah
    Homologene
    FAMILY
  • biopterin-dependent aromatic aminoacid hydroxylase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • phenylalanine hydroxylase, iron containing enzyme
  • rate-limiting step in phenylalanine catabolism
  • liver-specific phenylalanine hydroxylase catalyzes the conversion of phenylalanine to tyrosine
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • natural cofactor of phenylalanine hydroxylase (PAH), tetrahydrobiopterin (BH4), regulates the enzyme activity as well as being essential in catalysis
    • protein
    cell & other
    REGULATION
    Other complexly regulated by its substrate L-Phenylalanine and its natural cofactor 6R-L-erythro-5,6,7,8-tetrahydrobiopterin (BH(4))
    regulated by both arginine AA and exon 7 which is of great significance with regards to the structure and function of the PAH enzyme
    regulated by three main mechanisms, substrate (L-Phe) activation, pterin cofactor inhibition and phosphorylation of a single serine (Ser16) residue
    ASSOCIATED DISORDERS
    corresponding disease(s) PKU
    related resource Phenylalanine Hydroxylase Locus Database Home Page
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    metabolism  
    ANIMAL & CELL MODELS