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Pah
Gene Detail
 Symbol
Name
ID
Pah
phenylalanine hydroxylase
MGI:97473
Feature Type protein coding gene
Genetic Map
Chromosome 10
43.64 cM, cytoband C2-D1
Detailed Genetic Map ± 1 cM


Mapping data(26)
Sequence Map
Chr10:87521795-87584136 bp, + strand
From VEGA annotation of GRCm38

  62342 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:234  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: tyrosine 3-monooxygenase
Gene Tree: Pah

Human
homologs
Human Homolog PAH, phenylalanine hydroxylase
NCBI Gene ID 5053
neXtProt AC  NX_P00439
Human Synonyms  PH, PKU, PKU1
Human Chr (Location)  12q22-q24.2; chr12:102838326-102917603 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human PAH
Alleles
and
phenotypes
All alleles(6) : Chemically induced (ENU)(4) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for ENU-induced mutations of this gene have altered serum and urine phenylalanine levels and may display reduced body size, microcephaly, microphthalmia, decreased litter size, hypopigmentation, impaired balance/swimming, cognitive deficits, and environmentally-induced seizures.
 
Human Diseases Modeled Using Mouse Pah (1)    Alleles Annotated to Human Diseases(2)   
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process aromatic amino acid family metabolic process, L-phenylalanine catabolic process, ...
Component extracellular vesicular exosome
Function amino acid binding, catalytic activity, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (118)    Tissues (95)    Images (25)
Theiler Stages: 22, 23
Assay TypeResults
RNA in situ 118
cDNA source data(241)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(251) Genomic(1) cDNA(247) Primer pair(1) Other(2)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000023594 (Evidence)
Ensembl Gene ModelENSMUSG00000020051 (Evidence)
Entrez Gene18478 (Evidence)
UniGene263539
DFCITC1573028, TC1721143
DoTSDT.496589
NIA Mouse Gene IndexU011849
EC1.14.16.1
Consensus CDS ProjectCCDS24102.1
International Mouse Knockout Project StatusPah
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023594 VEGA Gene Model | MGI Sequence Detail 62342 C57BL/6J ±  kb
transcript OTTMUST00000057595 VEGA | MGI Sequence Detail 2142 Not Applicable 
polypeptide OTTMUSP00000027786 VEGA | MGI Sequence Detail 453 Not Applicable 

For the selected sequences
All sequences(39) RefSeq(2) UniProt(5)
Polymorphisms All PCR and RFLP(13) : PCR(1) RFLP(12) SNPs within 2kb(305 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002912 ACT domain
InterPro IPR001273 Aromatic amino acid hydroxylase
InterPro IPR019774 Aromatic amino acid hydroxylase, C-terminal
InterPro IPR018301 Aromatic amino acid hydroxylase, iron/copper binding site
InterPro IPR005961 Phenylalanine-4-hydroxylase, tetrameric form
InterPro IPR019773 Tyrosine 3-monooxygenase-like
Protein Ontology PR:000012234 phenylalanine-4-hydroxylase
References (Earliest) J:12024 Dahl HH, et al., Isolation and sequence of a cDNA clone which contains the complete coding region of rat phenylalanine hydroxylase. Structural homology with tyrosine hydroxylase, glucocorticoid regulation, and use of alternate polyadenylation sites. J Biol Chem. 1986 Mar 25;261(9):4148-53
(Latest) J:209846 Pascucci T, et al., Behavioral and neurochemical characterization of new mouse model of hyperphenylalaninemia. PLoS One. 2013;8(12):e84697
All references(106)
Other
accession IDs
MGD-MRK-13126, MGI:2143804

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory