About   Help   FAQ
Pah Gene Detail
Summary
  • Symbol
    Pah
  • Name
    phenylalanine hydroxylase
  • Feature Type
    protein coding gene
  • IDs
    MGI:97473
    NCBI Gene: 18478
  • Gene Overview
    MyGene.info: PAH
Location & Maps
more
  • Sequence Map
    Chr10:87521795-87584136 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      62342 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 43.64 cM, cytoband C2-D1
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    26 experiments
Homology
more
  • Human Ortholog
    PAH, phenylalanine hydroxylase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PAH, phenylalanine hydroxylase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    PH, PKU, PKU1
  • Links
    NCBI Gene ID: 5053
    neXtProt AC: NX_P00439

  • Chr Location
    12q23.2; chr12:102838321-102917603 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Pah mouse models; 1 with human PAH associations

Human Disease Mouse Models
       Phenylketonuria; PKU   OMIM: 261600 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    22 phenotypes from 4 alleles in 5 genetic backgrounds
    46 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Chemically induced (ENU)
    4
  • Chemically induced (other)
    1
  • Targeted
    2
  • Transgenic
    1
  • Genomic Mutations
    1 involving Pah
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    302 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000012234 phenylalanine-4-hydroxylase
  • EC
  • InterPro Domains
    IPR002912 ACT domain
    IPR001273 Aromatic amino acid hydroxylase
    IPR019774 Aromatic amino acid hydroxylase, C-terminal
    IPR018301 Aromatic amino acid hydroxylase, iron/copper binding site
    IPR005961 Phenylalanine-4-hydroxylase, tetrameric form
    IPR019773 Tyrosine 3-monooxygenase-like
Molecular
Reagents
less
  • All nucleic 251
    Genomic 1
    cDNA 247
    Primer pair 1
    Other 2

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-13126, MGI:2143804
References
more
  • Summaries
    All 102
    Developmental Gene Expression 4
    Diseases 6
    Gene Ontology 5
    Phenotypes 46
  • 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:228813 Sawin EA, et al., Glycomacropeptide is a prebiotic that reduces Desulfovibrio bacteria, increases cecal short-chain fatty acids, and is anti-inflammatory in mice. Am J Physiol Gastrointest Liver Physiol. 2015 Oct 1;309(7):G590-601

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/24/2016
MGI 6.04
The Jackson Laboratory