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Aliases for PAH Gene

Aliases for PAH Gene

  • Phenylalanine Hydroxylase 2 3 5
  • Phenylalanine 4-Monooxygenase 2 3
  • Phe-4-Monooxygenase 3 4
  • Phenylalanine-4-Hydroxylase 3
  • EC 1.14.16.1 4
  • PKU1 3
  • PKU 3
  • PH 3

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 Biogenic Amine Synthesis and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. 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.

Gene Wiki entry for PAH Gene

Additional gene information for PAH Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAH Gene

Genomics for PAH Gene

GeneHancer (GH) Regulatory Elements for PAH Gene

Promoters and enhancers for PAH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J102914 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.3 +40.5 40482 7 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 NFKBIZ RXRA SP5 PAH STAB2 GC12M102927 GC12P102871
GH12J102957 Promoter/Enhancer 1.1 EPDnew ENCODE 650.7 +0.6 631 0.3 MXI1 SMAD1 HCFC1 TRIM22 E2F1 HDAC2 TARDBP IKZF1 NBN CTBP2 PAH ASCL1
GH12J102958 Enhancer 0.7 ENCODE 650.7 +0.1 132 0.2 PKNOX1 MXI1 RB1 BACH1 CTBP1 ZSCAN29 EZH2 SMARCA5 NR2F1 TRIM22 PAH ASCL1
GH12J102959 Enhancer 0.7 ENCODE 650.7 -0.1 -118 0.3 HDGF CTCF PKNOX1 MXI1 RB1 SUZ12 BACH1 CTBP1 POLR2A ZSCAN29 PAH ASCL1 GC12M102978
GH12J102950 Enhancer 0.9 ENCODE 5 +7.9 7852 0.2 ELF3 PKNOX1 FOXA2 CLOCK ATF1 MLX ARID4B DMAP1 ZNF48 RAD21 PAH ENSG00000282964 GC12P102933
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PAH Gene

Genomic Locations for PAH Gene
chr12:102,836,885-102,958,410
(GRCh38/hg38)
Size:
121,526 bases
Orientation:
Minus strand
chr12:103,230,663-103,352,188
(GRCh37/hg19)
Size:
121,526 bases
Orientation:
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:
    P00439-PH4H_HUMAN
    Recommended name:
    Phenylalanine-4-hydroxylase
    Protein Accession:
    P00439
    Secondary Accessions:
    • Q16717
    • Q8TC14

    Protein attributes for PAH Gene

    Size:
    452 amino acids
    Molecular mass:
    51862 Da
    Cofactor:
    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

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

No data available for DME Specific Peptides for PAH Gene

Domains & Families for PAH Gene

Gene Families for PAH Gene

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

Suggested Antigen Peptide Sequences for PAH Gene

Graphical View of Domain Structure for InterPro Entry

P00439

UniProtKB/Swiss-Prot:

PH4H_HUMAN :
  • Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
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 CatalyticActivity:
L-phenylalanine + tetrahydrobiopterin + O(2) = L-tyrosine + 4a-hydroxytetrahydrobiopterin.
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.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=150 uM for L-Phe with BH(4) as cofactor {ECO:0000269 PubMed:18835579}; KM=30 uM for BH(4) {ECO:0000269 PubMed:18835579}; Vmax=3640 nmol/min/mg enzyme with BH(4) as cofactor (preincubated with L-Phe) {ECO:0000269 PubMed:18835579}; Vmax=1230 nmol/min/mg enzyme with BH(4) as cofactor (preincubated with BH(4)) {ECO:0000269 PubMed:18835579}; Temperature dependence: Optimum temperature is 50 degrees Celsius. {ECO:0000269 PubMed:18835579};
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:0004497 monooxygenase activity IEA --
GO:0004505 phenylalanine 4-monooxygenase activity IDA,IEA 20667834
GO:0005506 iron ion binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016714 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 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

COMPARTMENTS
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
extracellular 5
cytosol 5
plasma membrane 2
cytoskeleton 1
mitochondrion 1
nucleus 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 --
GO:0070062 extracellular exosome HDA --
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 TAS,IEA --
GO:0008152 metabolic process IEA --
GO:0008652 cellular amino acid biosynthetic process TAS 3856322
GO:0009072 aromatic amino acid family metabolic process IEA --
GO:0042136 neurotransmitter biosynthetic process NAS 2872999
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

(39) Drugs for PAH Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sapropterin Approved, Investigational Pharma Target, cofactor 0
Norepinephrine Approved Pharma Target, inhibitor 737
Droxidopa Approved, Investigational Pharma Target, inhibitor 33
Epinephrine Approved, Vet_approved Pharma Target, antagonist 1095
L-Phenylalanine Approved, Investigational Nutra Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4a-hydroxytetrahydrobiopterin
  • (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
70110-58-6
alpha-Methylphenylalanine
Inhibition, Inhibitor
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
15438-31-0
PCPA
Inhibition, Inhibitor
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
79647-29-3
genes like me logo Genes that share compounds with PAH: view

Transcripts for PAH Gene

mRNA/cDNA for PAH Gene

Unigene Clusters for PAH Gene

Phenylalanine hydroxylase:
Representative Sequences:

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
PAH
ECgene alternative splicing isoforms for
PAH

Expression for PAH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of PAH Gene:

PAH

SOURCE GeneReport for Unigene cluster for PAH Gene:

Hs.603740

Evidence on tissue expression from TISSUES for PAH Gene

  • Liver(5)
  • Kidney(4.1)
  • Nervous system(2.2)
  • Blood(2.1)
  • Gall bladder(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • eye
  • head
  • skull
Thorax:
  • esophagus
Abdomen:
  • kidney
  • stomach
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia PAH 34 33
  • 99.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PAH 34 33
  • 90.98 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PAH 34 33
  • 89.5 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pah 33
  • 87.61 (n)
mouse
(Mus musculus)
Mammalia Pah 16 34 33
  • 87.17 (n)
oppossum
(Monodelphis domestica)
Mammalia PAH 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAH 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAH 34 33
  • 77.06 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PAH 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pah 33
  • 72.54 (n)
zebrafish
(Danio rerio)
Actinopterygii pah 34 33
  • 69.99 (n)
OneToOne
zgc65981 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9738 33
fruit fly
(Drosophila melanogaster)
Insecta Hn 34 35 33
  • 63.72 (n)
OneToOne
CG9122 35
  • 51 (a)
ple 35
  • 49 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005712 33
  • 60.71 (n)
worm
(Caenorhabditis elegans)
Secernentea pah-1 34 33
  • 57.78 (n)
OneToOne
bas-2 35
  • 56 (a)
cat-2 35
  • 46 (a)
tph-1 35
  • 45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5653 34
  • 60 (a)
OneToOne
Cin.1008 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1008 33
Species where no ortholog for PAH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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

ENSEMBL:
Gene Tree for PAH (if available)
TreeFam:
Gene Tree for PAH (if available)
Aminode:
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:

  • PH4H_HUMAN
  • F8W0A0_HUMAN
  • F8W1D4_HUMAN
  • J3KND8_HUMAN
  • Q16021_HUMAN
  • Q16265_HUMAN
  • Q16266_HUMAN
  • Q16267_HUMAN
  • Q16268_HUMAN
  • Q66RJ5_HUMAN
  • Q66RJ7_HUMAN
  • Q66RJ9_HUMAN
  • Q6Q2K7_HUMAN
  • Q8TEY0_HUMAN
  • S6C6B5_HUMAN
  • V9GZP8_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

PH4H_HUMAN-P00439
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 from dbSNP and Humsavar for PAH Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1037293795 likely-pathogenic, Phenylketonuria 102,843,698(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, stop_gained
rs1042503 benign, not-provided, likely-pathogenic, not specified, not provided, Phenylketonuria 102,852,922(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs1057516377 likely-pathogenic, Phenylketonuria 102,840,417(-) AAAA/AAAAA coding_sequence_variant, frameshift, genic_downstream_transcript_variant
rs1057516389 likely-pathogenic, Phenylketonuria 102,894,758(-) G/ coding_sequence_variant, frameshift
rs1057516604 likely-pathogenic, Phenylketonuria 102,894,733(-) A/AA splice_donor_variant

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)
PAH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAH

SNP Genotyping and Copy Number Assay Products

Disorders for PAH Gene

MalaCards: The human disease database

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

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

UniProtKB/Swiss-Prot

PH4H_HUMAN
  • 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

phenylketonuria,hyperphenylalaninemia

Additional Disease Information for PAH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 25 58
  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 22 25 58
  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 22 44 58
  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 22 44 58
  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 22 44 58

Products for PAH Gene

Sources for PAH Gene

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