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] See more...

Aliases for PAH Gene

Aliases for PAH Gene

  • Phenylalanine Hydroxylase 2 3 5
  • Phenylalanine 4-Monooxygenase 2 3
  • Phenylalanine-4-Hydroxylase 3 4
  • Phe-4-Monooxygenase 3 4
  • EC 4 51
  • PH 2 3
  • EC 1.14.16 51
  • PKU1 3
  • PKU 3
  • PAH 5

External Ids for PAH Gene

Previous GeneCards Identifiers for PAH Gene

  • GC12M102330
  • GC12M103190
  • GC12M101735
  • GC12M101736
  • GC12M101737
  • GC12M100292
  • GC12M103230

Summaries for PAH Gene

Entrez Gene Summary for PAH Gene

  • 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]

GeneCards Summary for PAH Gene

PAH (Phenylalanine Hydroxylase) is a Protein Coding gene. Diseases associated with PAH include Phenylketonuria and Mild Hyperphenylalaninemia. Among its related pathways are Tyrosine metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. Gene Ontology (GO) annotations related to this gene include iron ion binding and 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. An important paralog of this gene is TPH2.

UniProtKB/Swiss-Prot Summary for PAH Gene

Gene Wiki entry for PAH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PAH Gene

Genomics for PAH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PAH Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J102957 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 611.3 +0.2 241 2 BACH1 FOXA1 LARP7 POLR2A RCOR1 TRIM22 EZH2 PKNOX1 HES1 ARID3A PAH 5MWI_A-034 ASCL1 lnc-PAH-3
GH12J102914 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 600.3 +40.5 40513 7 HNRNPL GATAD2A REST TFE3 SOX13 NFKBIZ KDM1A RCOR2 RBFOX2 RXRB PAH STAB2 lnc-C12orf42-6 lnc-C12orf42-5 ASCL1 lnc-PAH-3 IGF1
GH12J102960 Enhancer 0.5 Ensembl 600.7 -1.8 -1760 1.2 EZH2 YBX1 NBN CBX8 TARDBP SPI1 MLLT1 5MWI_A-034 PAH lnc-PAH-3 ASCL1 HSALNG0093584 C12orf42
GH12J102879 Enhancer 0.9 Ensembl ENCODE 5.5 +79.2 79214 0.5 CTCF TEAD4 ZNF512 KDM1A ZNF143 PKNOX1 REST RAD21 TRIM22 ARID3A ASCL1 PAH MN309500 lnc-C12orf42-6 IGF1
GH12J102950 Enhancer 0.8 ENCODE 5 +7.9 7883 0.2 CREB1 CTCF TFE3 RXRB IRF2 SP1 MNT SOX13 RAD21 GATAD2B LOC112267865 lnc-ASCL1-2 PAH ASCL1 lnc-PAH-3 lnc-C12orf42-5 IGF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PAH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PAH

Top Transcription factor binding sites by QIAGEN in the PAH gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • NF-1
  • NF-kappaB
  • POU2F1
  • POU2F1a

Genomic Locations for PAH Gene

Genomic Locations for PAH Gene
121,553 bases
Minus strand
121,526 bases
Minus strand

Genomic View for PAH Gene

Genes around PAH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAH Gene

Proteins for PAH Gene

  • Protein details for PAH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q16717
    • Q8TC14

    Protein attributes for PAH Gene

    452 amino acids
    Molecular mass:
    51862 Da
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    • Homodimer and homotetramer.

    Three dimensional structures from OCA and Proteopedia for PAH Gene

neXtProt entry for PAH Gene

Selected DME Specific Peptides for PAH Gene


Post-translational modifications for PAH Gene

  • Phosphorylation at Ser-16 increases basal activity and facilitates activation by the substrate phenylalanine.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for PAH

Domains & Families for PAH Gene

Gene Families for PAH Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PAH Gene

GenScript: Design optimal peptide antigens:
  • Phe-4-monooxygenase (PH4H_HUMAN)
  • PAH protein (Q16021_HUMAN)
  • PAH protein (Q16265_HUMAN)
  • PAH protein (Q16266_HUMAN)
  • PAH protein (Q16267_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
  • Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
genes like me logo Genes that share domains with PAH: view

Function for PAH Gene

Molecular function for PAH Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + L-phenylalanine + O2 = (4aS,6R)-4a-hydroxy-L-erythro-5,6,7,8-tetrahydrobiopterin + L-tyrosine; Xref=Rhea:RHEA:20273, ChEBI:CHEBI:15379, ChEBI:CHEBI:15642, ChEBI:CHEBI:58095, ChEBI:CHEBI:58315, ChEBI:CHEBI:59560; EC=; Evidence={ECO:0000269|PubMed:18460651, ECO:0000269|PubMed:18835579};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=150 uM for L-phenylalanine {ECO:0000269|PubMed:18835579}; KM=154 uM for L-phenylalanine (at 25 degrees Celsius) {ECO:0000269|PubMed:18460651}; KM=30 uM for tetrahydrobiopterin (BH(4)) {ECO:0000269|PubMed:18835579}; KM=36 uM for tetrahydrobiopterin (BH(4)) (at 25 degrees Celsius) {ECO:0000269|PubMed:18460651}; Vmax=3500 nmol/min/mg enzyme towards L-phenylalanine (at 25 degrees Celsius) {ECO:0000269|PubMed:18460651}; Vmax=3600 nmol/min/mg enzyme towards tetrahydrobiopterin (BH(4)) (at 25 degrees Celsius) {ECO:0000269|PubMed:18460651}; Vmax=3640 nmol/min/mg enzyme towards L-phenylalanine (preincubated with L-Phe) {ECO:0000269|PubMed:18835579}; Vmax=1230 nmol/min/mg enzyme towards L-phenylalanine (preincubated with BH(4)) {ECO:0000269|PubMed:18835579}; Temperature dependence: Optimum temperature is 50 degrees Celsius. {ECO:0000269|PubMed:18835579};
UniProtKB/Swiss-Prot EnzymeRegulation:
N-terminal region of PAH is thought to contain allosteric binding sites for phenylalanine and to constitute an 'inhibitory' domain that regulates the activity of a catalytic domain in the C-terminal portion of the molecule.
GENATLAS Biochemistry:
phenylalanine hydroxylase,iron containing enzyme

Enzyme Numbers (IUBMB) for PAH Gene

Phenotypes From GWAS Catalog for PAH Gene

Gene Ontology (GO) - Molecular Function for PAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004497 monooxygenase activity IEA --
GO:0004505 phenylalanine 4-monooxygenase activity IEA,IDA 20667834
GO:0005506 iron ion binding IEA --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with PAH: view
genes like me logo Genes that share phenotypes with PAH: view

Human Phenotype Ontology for PAH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for PAH Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAH

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PAH Gene

Localization for PAH Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PAH gene
Compartment Confidence
cytosol 5
plasma membrane 3
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PAH: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PAH Gene

Pathways & Interactions for PAH Gene

genes like me logo Genes that share pathways with PAH: view

UniProtKB/Swiss-Prot P00439-PH4H_HUMAN

  • Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 1/6.

Gene Ontology (GO) - Biological Process for PAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006559 L-phenylalanine catabolic process IEA,TAS --
GO:0006571 tyrosine biosynthetic process IBA 21873635
GO:0008152 metabolic process IEA --
GO:0008652 cellular amino acid biosynthetic process TAS 3856322
GO:0009072 aromatic amino acid family metabolic process IEA --
genes like me logo Genes that share ontologies with PAH: view

No data available for SIGNOR curated interactions for PAH Gene

Drugs & Compounds for PAH Gene

(42) Drugs for PAH Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phenylalanine Approved, Investigational Nutra Target 256
Sapropterin Approved, Investigational Pharma Target, cofactor 0
Norepinephrine Approved Pharma Target, inhibitor 952
Iron Approved, Experimental Pharma 1560
Droxidopa Approved, Investigational Pharma Target, inhibitor 36

(33) Additional Compounds for PAH Gene - From: Novoseek, IUPHAR, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (6R)-6-(L-erythro-1,2-Dihydroxypropyl)-5,6,7,8-tetrahydro-4a-hydroxypterin
  • 4a-Hydroxy-5,6,4,8-tetrahydrobiopterin
  • 2-amino-6-(1,2-Dihydroxypropyl)-4a-hydroxy-5,6,7,8-tetrahydropteridin-4(4ah)-one
  • 2-amino-6-(1,2-Dihydroxypropyl)-5,6,7,8-tetrahydro-4a-hydroxy-4(4ah)-pteridinone
  • 2-amino-6-[(1R,2S)-1,2-Dihydroxypropyl]-4a-hydroxy-1,5,6,7-tetrahydropteridin-4-one
Inhibitor, Inhibition
Inhibitor, Inhibition
4a-Carbinolamine tetrahydrobiopterin
  • 6,7-Dihydrobiopterin
  • Quinoid-dihydrobiopterin
  • (6R)-6-(L-erythro-1,2-Dihydroxypropyl)-7,8-dihydro-6H-pterin
  • 1,3,5-Benzenetriol
  • 1,3,5-Trihydroxybenzene
  • (-)-(6R)-2-amino-6-((1R,2S)-1,2-Dihydroxypropyl)-5,6,7,8-tetrahydro-4(3H)-pteridinone
  • (6R)-L-erythro-Tetrahydrobiopterin
  • 2-amino-6-(1,2-Dihydroxypropyl)-5,6,7,8-tetrahydoro-4(1H)-pteridinone
  • 5,6,7,8-Tetrahydrobiopterin
  • 6R-5,6,7,8-Tetrahydrobiopterin

(1) ApexBio Compounds for PAH Gene

Compound Action Cas Number
WWL 70 α/β-hydrolase domain 6 inhibitor 947669-91-2
genes like me logo Genes that share compounds with PAH: view

Drug Products

Transcripts for PAH Gene

mRNA/cDNA for PAH Gene

10 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAH

Alternative Splicing Database (ASD) splice patterns (SP) for PAH Gene

No ASD Table

Relevant External Links for PAH Gene

GeneLoc Exon Structure for

Expression for PAH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PAH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PAH Gene

This gene is overexpressed in Liver (x43.4) and Kidney - Cortex (x6.3).

Protein differential expression in normal tissues from HIPED for PAH Gene

This gene is overexpressed in Gallbladder (21.2), Liver, secretome (18.5), Liver (16.9), and Fetal Liver (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PAH Gene

Protein tissue co-expression partners for PAH Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PAH

SOURCE GeneReport for Unigene cluster for PAH Gene:


Evidence on tissue expression from TISSUES for PAH Gene

  • Liver(5)
  • Kidney(4.3)
  • Nervous system(2.6)
  • Blood(2.5)
  • Heart(2.2)
  • Skin(2.1)
  • Gall bladder(2.1)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PAH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • eye
  • head
  • skull
  • esophagus
  • kidney
  • stomach
  • blood
  • hair
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with PAH: view

No data available for mRNA Expression by UniProt/SwissProt for PAH Gene

Orthologs for PAH Gene

This gene was present in the common ancestor of animals.

Orthologs for PAH Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PAH 30 31
  • 99.71 (n)
(Canis familiaris)
Mammalia PAH 30 31
  • 90.98 (n)
(Bos Taurus)
Mammalia PAH 30 31
  • 89.5 (n)
(Rattus norvegicus)
Mammalia Pah 30
  • 87.61 (n)
(Mus musculus)
Mammalia Pah 30 17 31
  • 87.17 (n)
(Monodelphis domestica)
Mammalia PAH 31
  • 86 (a)
(Ornithorhynchus anatinus)
Mammalia PAH 31
  • 84 (a)
(Gallus gallus)
Aves PAH 30 31
  • 77.06 (n)
(Anolis carolinensis)
Reptilia PAH 31
  • 79 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pah 30
  • 72.54 (n)
(Danio rerio)
Actinopterygii pah 30 31
  • 69.99 (n)
zgc65981 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9738 30
Fruit Fly
(Drosophila melanogaster)
Insecta Hn 30 31 32
  • 63.72 (n)
CG9122 32
  • 51 (a)
ple 32
  • 49 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005712 30
  • 60.71 (n)
(Caenorhabditis elegans)
Secernentea pah-1 30 31
  • 57.78 (n)
bas-2 32
  • 56 (a)
cat-2 32
  • 46 (a)
tph-1 32
  • 45 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5653 31
  • 60 (a)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1008 30
Species where no ortholog for PAH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PAH Gene

Gene Tree for PAH (if available)
Gene Tree for PAH (if available)
Evolutionary constrained regions (ECRs) for PAH: view image

Paralogs for PAH Gene

Paralogs for PAH Gene

(3) SIMAP similar genes for PAH Gene using alignment to 16 proteins:

  • F8W0A0_HUMAN
  • F8W1D4_HUMAN
  • Q16021_HUMAN
  • Q16265_HUMAN
  • Q16266_HUMAN
  • Q16267_HUMAN
  • Q16268_HUMAN
  • Q66RJ5_HUMAN
  • Q66RJ7_HUMAN
  • Q66RJ9_HUMAN
  • Q6Q2K7_HUMAN
  • S6C6B5_HUMAN
genes like me logo Genes that share paralogs with PAH: view

Variants for PAH Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PAH Gene

The Glu-274 variant occurs on approximately 4% of African-American PAH alleles. The enzyme activity of the variant protein is indistinguishable from that of the wild-type form.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PAH Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
102462 Not Provided: not provided 102,917,535(-) ATTGGACTAAGCCTGC
625286 Pathogenic: Phenylketonuria 102,840,517(-) T/G SPLICE_ACCEPTOR_VARIANT
625287 Pathogenic: Phenylketonuria 102,917,099(-) A/T NONSENSE
625288 Pathogenic: Phenylketonuria 102,855,252(-) A/T NONSENSE
625289 Pathogenic: Phenylketonuria 102,843,743(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PAH Gene

Structural Variations from Database of Genomic Variants (DGV) for PAH Gene

Variant ID Type Subtype PubMed ID
dgv196e201 CNV deletion 23290073
dgv512e212 CNV loss 25503493
dgv862n106 CNV deletion 24896259
esv1495220 CNV deletion 17803354
esv1533666 CNV deletion 17803354
esv2285780 CNV deletion 18987734
esv2370143 CNV deletion 18987734
esv2674462 CNV deletion 23128226
esv2746287 CNV deletion 23290073
esv2746289 CNV deletion 23290073
esv2746290 CNV deletion 23290073
esv2746291 CNV deletion 23290073
esv2746292 CNV deletion 23290073
esv3310391 CNV mobile element insertion 20981092
esv3411941 CNV insertion 20981092
esv3549705 CNV deletion 23714750
esv3630602 CNV loss 21293372
nsv1070546 CNV deletion 25765185
nsv832500 CNV loss 17160897

Variation tolerance for PAH Gene

Residual Variation Intolerance Score: 60.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PAH Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

Disorders for PAH Gene

MalaCards: The human disease database

(27) MalaCards diseases for PAH Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PAH in MalaCards View complete list of genes associated with diseases


  • Phenylketonuria (PKU) [MIM:261600]: Autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes mental retardation (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor. {ECO:0000269 PubMed:10200057, ECO:0000269 PubMed:10679941, ECO:0000269 PubMed:11180595, ECO:0000269 PubMed:11326337, ECO:0000269 PubMed:11385716, ECO:0000269 PubMed:11461196, ECO:0000269 PubMed:12501224, ECO:0000269 PubMed:1355066, ECO:0000269 PubMed:1363837, ECO:0000269 PubMed:1363838, ECO:0000269 PubMed:1671810, ECO:0000269 PubMed:1672290, ECO:0000269 PubMed:1672294, ECO:0000269 PubMed:1679030, ECO:0000269 PubMed:1709636, ECO:0000269 PubMed:18538294, ECO:0000269 PubMed:1975559, ECO:0000269 PubMed:2014802, ECO:0000269 PubMed:22513348, ECO:0000269 PubMed:22526846, ECO:0000269 PubMed:23792259, ECO:0000269 PubMed:2564729, ECO:0000269 PubMed:2615649, ECO:0000269 PubMed:2840952, ECO:0000269 PubMed:7833954, ECO:0000269 PubMed:8068076, ECO:0000269 PubMed:8406445, ECO:0000269 PubMed:8889583, ECO:0000269 PubMed:8889590, ECO:0000269 PubMed:9048935, ECO:0000269 PubMed:9101291, ECO:0000269 PubMed:9452061, ECO:0000269 PubMed:9452062, ECO:0000269 PubMed:9521426, ECO:0000269 PubMed:9600453, ECO:0000269 PubMed:9792407, ECO:0000269 PubMed:9792411, ECO:0000269 PubMed:9950317}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]: Mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one. {ECO:0000269 PubMed:1358789, ECO:0000269 PubMed:8088845, ECO:0000269 PubMed:8098245, ECO:0000269 PubMed:9521426, ECO:0000269 PubMed:9852673}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hyperphenylalaninemia (HPA) [MIM:261600]: Mildest form of phenylalanine hydroxylase deficiency. {ECO:0000269 PubMed:11385716, ECO:0000269 PubMed:11935335, ECO:0000269 PubMed:12501224, ECO:0000269 PubMed:1358789, ECO:0000269 PubMed:23792259, ECO:0000269 PubMed:8088845, ECO:0000269 PubMed:8098245, ECO:0000269 PubMed:9521426, ECO:0000269 PubMed:9852673}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for PAH Gene


Additional Disease Information for PAH

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PAH: view

Publications for PAH Gene

  1. High resolution crystal structures of the catalytic domain of human phenylalanine hydroxylase in its catalytically active Fe(II) form and binary complex with tetrahydrobiopterin. (PMID: 11718561) Andersen OA … Hough E (Journal of molecular biology 2001) 3 4 23 26
  2. Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria. (PMID: 9642259) Fusetti F … Stevens RC (The Journal of biological chemistry 1998) 3 4 23 26
  3. [Mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Tianjin and surrounding areas of Northern China]. (PMID: 20140859) Song L … Fu B (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2010) 3 23 41
  4. A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin. (PMID: 19444284) Dobrowolski SF … Naylor EW (Journal of human genetics 2009) 3 23 41
  5. Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency. (PMID: 19394257) Karacić I … Blau N (Molecular genetics and metabolism 2009) 3 23 41

Products for PAH Gene

  • Signalway ELISA kits for PAH
  • Signalway Proteins for PAH

Sources for PAH Gene