Phenylalanine hydroxylase

PAH
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1DMW, 1J8T, 1J8U, 1KW0, 1LRM, 1MMK, 1MMT, 1TDW, 1TG2, 2PAH, 3PAH, 4ANP, 5PAH, 6PAH, 5FII
Identifiers
Aliases	PAH, PH, PKU, PKU1, phenylalanine hydroxylase
External IDs	OMIM: 612349; MGI: 97473; HomoloGene: 234; GeneCards: PAH; OMA:PAH - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q23.2 Start 102,836,889 bp[1] End 102,958,410 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 C1|10 43.64 cM Start 87,357,657 bp[2] End 87,419,998 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver gallbladder kidney tubule glomerulus metanephric glomerulus body of pancreas renal medulla human kidney testicle sperm Top expressed in left lobe of liver human kidney right kidney gallbladder proximal tubule pyloric antrum human fetus fetal liver hematopoietic progenitor cell pancreas sexually immature organism More reference expression data BioGPS More reference expression data
Gene ontology Molecular function iron ion binding phenylalanine 4-monooxygenase activity metal ion binding monooxygenase activity catalytic activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen oxidoreductase activity Cellular component cytosol Biological process catecholamine biosynthetic process neurotransmitter biosynthetic process L-phenylalanine catabolic process cellular amino acid biosynthetic process aromatic amino acid family metabolic process metabolism tyrosine biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5053 18478 Ensembl ENSG00000171759 ENSMUSG00000020051 UniProt P00439 P16331 RefSeq (mRNA) NM_000277 NM_001354304 NM_008777 RefSeq (protein) NP_000268 NP_001341233 NP_032803 Location (UCSC) Chr 12: 102.84 – 102.96 Mb Chr 10: 87.36 – 87.42 Mb PubMed search [3] [4]
Wikidata
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Phenylalanine hydroxylase (PAH) (EC 1.14.16.1) is an enzyme that catalyzes the hydroxylation of the aromatic side-chain of phenylalanine to generate tyrosine. PAH is one of three members of the biopterin-dependent aromatic amino acid hydroxylases, a class of monooxygenase that uses tetrahydrobiopterin (BH₄, a pteridine cofactor) and a non-heme iron for catalysis. During the reaction, molecular oxygen is heterolytically cleaved with sequential incorporation of one oxygen atom into BH₄ and phenylalanine substrate.^[5][6] In humans, mutations in its encoding gene, PAH, can lead to the metabolic disorder phenylketonuria.