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PAH Gene(Protein Coding)

Phenylalanine Hydroxylase

GCID:
GC12M102836
GIFtS:
66
Genes Participants
UDN Logo

Aliases for PAH Gene

Aliases for PAH Gene

  • Phenylalanine Hydroxylase 2 3 5
  • Phenylalanine 4-Monooxygenase 2 3
  • Phe-4-Monooxygenase 3 4
  • EC 1.14.16.1 4 61
  • Phenylalanine-4-Hydroxylase 3
  • EC 1.14.16 61
  • 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

  • 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, Jul 2008]

GeneCards Summary for PAH Gene

PAH (Phenylalanine Hydroxylase) is a Protein Coding gene. Diseases associated with PAH include Phenylketonuria and Classic Phenylketonuria. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Viral mRNA Translation. 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

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

Products:

  1. Regulatory Element

Regulatory Elements for PAH Gene

Enhancers for PAH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G102950 0.9 ENCODE 5 +7.9 7853 0.2 ELF3 PKNOX1 ATF1 MLX ARID4B DMAP1 ZNF48 RAD21 RARA YY1 PAH LOC101929036 GC12P102933
GH12G102884 1 ENCODE 4.5 +72.5 72470 2.0 HNRNPUL1 HDGF PKNOX1 FOXA2 ZNF48 CBX5 SP5 NFYC JUNB PPARG ASCL1 PAH GC12P102871 GC12M102927
GH12G102879 0.8 ENCODE 5.4 +79.1 79053 0.2 CTCF PKNOX1 TEAD4 SIN3A RAD21 ARID3A GATA3 SMC3 ZNF143 FOS ASCL1 PAH GC12P102871 GC12M102927
GH12G102958 0.8 ENCODE 0.7 +0.1 133 0.2 RING1 GTF2F1 PKNOX1 MXI1 SUZ12 BACH1 MAX RBBP5 CTBP1 ARID3A PAH ASCL1
GH12G102959 0.8 ENCODE 0.7 -0.1 -118 0.3 RING1 HDGF GTF2F1 CTCF PKNOX1 MXI1 SUZ12 BACH1 RBBP5 CTBP1 PAH GC12M102978
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PAH on UCSC Golden Path with GeneCards custom track

Promoters for PAH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000056420 103 601 ARID4B DMAP1 ZNF48 YY1 SP5 SREBF1 SSRP1 MIER3 MXD3 ETV4

Transcription factor binding sites by QIAGEN in the PAH gene promoter:

Genomic Location for PAH Gene

Chromosome:
12
Start:
102,836,885 bp from pter
End:
102,958,410 bp from pter
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 Structure • Gene Density

RefSeq DNA sequence for PAH Gene

Proteins for PAH Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for PAH Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PAH Gene

P00439:
  • KDEYEFFT
  • EFGLCKQ
  • NHIFPLLEKYCGF
  • IGLASLG
  • NLTHIESRPSRL
  • GAGLLSS
  • YYVAESF
  • YWFTVEFGLC
  • FSQEIGLAS
  • GLAFRVFH
  • RVFHCTQY
  • KPKLLPLELEKTA
  • HELLGHVP
  • PQLEDVS
  • RPVAGLLS
  • GQPIPRVEY
  • KAYGAGLLSSFGELQY
  • ELDADHPGFKD
  • YTPEPDICHELLGHVPLF

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

Other Protein References for PAH Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PAH Gene

Gene Families for PAH Gene

IUPHAR :

Protein Domains for PAH Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PAH Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for PAH Gene

GENATLAS Biochemistry:
phenylalanine hydroxylase,iron containing enzyme
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};
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.

Enzyme Numbers (IUBMB) 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 IEA,IDA 20667834
GO:0005506 iron ion binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016597 amino acid binding 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

miRTarBase miRNAs that target PAH

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PAH

Flow Cytometry Products

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

Gene Ontology (GO) - Cellular Components for PAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23376485
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

Products:

  1. Drug

(38) Drugs for PAH Gene - From: DrugBank, ApexBio, 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 699
Droxidopa Approved, Investigational Pharma Target, inhibitor 31
Epinephrine Approved, Vet_approved Pharma Target, antagonist 985
L-Phenylalanine Approved 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
  • 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
  • 4a-Hydroxy-5,6,7,8-tetrahydrobiopterin
 70110-58-6
alpha-Methylphenylalanine
Inhibition, Inhibitor
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
 15438-31-0
PCPA
Inhibition, Inhibitor
4a-Carbinolamine tetrahydrobiopterin
  • 1,3,5-Benzenetriol
  • 1,3,5-Trihydroxybenzene
  • 1,3,5-Trihydroxybenzene anhydrate
  • 1,3,5-Trihydroxybenzene anhydrous
  • 1,3,5-Trihydroxybenzene dihydrate
 79647-29-3

(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

Transcripts for PAH Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for PAH Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(167) Selected AceView cDNA sequences:
(18) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PAH Gene

Phenylalanine hydroxylase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PAH

Flow Cytometry Products

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

Products:

  1. Primer

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

mRNA expression in normal human tissues for PAH Gene
mRNA expression by BioGPS for PAH GenemRNA expression by GTEx 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, PaxDb, 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)
  • Gall bladder(2.1)
  • Blood(2)

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
Organs:
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 35
  • 99.71 (n)
dog
(Canis familiaris)
 Mammalia PAH 34 35
  • 90.98 (n)
cow
(Bos Taurus)
 Mammalia PAH 34 35
  • 89.5 (n)
rat
(Rattus norvegicus)
 Mammalia Pah 34
  • 87.61 (n)
mouse
(Mus musculus)
 Mammalia Pah 34 16 35
  • 87.17 (n)
oppossum
(Monodelphis domestica)
 Mammalia PAH 35
  • 86 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PAH 35
  • 84 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PAH 34 35
  • 77.06 (n)
lizard
(Anolis carolinensis)
 Reptilia PAH 35
  • 79 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pah 34
  • 72.54 (n)
zebrafish
(Danio rerio)
 Actinopterygii pah 34 35
  • 69.99 (n)
zgc65981 34
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9738 34
fruit fly
(Drosophila melanogaster)
 Insecta Hn 36 34 35
  • 63.72 (n)
CG9122 36
  • 51 (a)
ple 36
  • 49 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP005712 34
  • 60.71 (n)
worm
(Caenorhabditis elegans)
 Secernentea pah-1 34 35
  • 57.78 (n)
bas-2 36
  • 56 (a)
cat-2 36
  • 46 (a)
tph-1 36
  • 45 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.5653 35
  • 60 (a)
 OneToOne
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.1008 34
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)

Paralogs for PAH Gene

Paralogs for PAH Gene

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

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 Sequence Context AA Info Type
rs118092776 untested, Phenylketonuria (PKU) [MIM:261600] 102,912,801(+) ATAAG(C/T)GCAAT reference, missense
rs118203921 other, Phenylketonuria (PKU) [MIM:261600] 102,852,881(-) CCTGG(C/T)CTTCC reference, missense
rs118203923 Pathogenic, Phenylketonuria (PKU) [MIM:261600] 102,852,926(-) CCGAC(C/T)TGTGG reference, missense
rs118203925 Pathogenic, Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600] 102,912,819(-) TGGTG(A/C/T)ATTGG reference, missense
rs138809906 untested, Phenylketonuria (PKU) [MIM:261600] 102,855,321(+) GAGGG(A/G/T)TGGGC reference, missense

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)

Relevant External Links for PAH Gene

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

Disorders for PAH Gene

MalaCards: The human disease database

(16) MalaCards diseases for PAH Gene - From: OMIM, ClinVar, GeneTests, 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
  • 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.
  • 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.
  • 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.

Genatlas disease for PAH Gene

phenylketonuria,hyperphenylalaninemia

Relevant External Links for PAH

Genetic Association Database (GAD)
PAH
Human Genome Epidemiology (HuGE) Navigator
PAH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAH
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 O.A. … Hough E. (J. Mol. Biol. 2001) 3 4 22 25 64
  2. Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria. (PMID: 9642259) Fusetti F. … Stevens R.C. (J. Biol. Chem. 1998) 3 4 22 25 64
  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 2010) 3 22 46 64
  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 S.F. … Naylor E.W. (J. Hum. Genet. 2009) 3 22 46 64
  5. Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency. (PMID: 19394257) KaraciA8 I. … Blau N. (Mol. Genet. Metab. 2009) 3 22 46 64

Products for PAH Gene

  • Addgene plasmids for PAH

Sources for PAH Gene

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