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Pah Gene Detail
Summary
  • Symbol
    Pah
  • Name
    phenylalanine hydroxylase
  • Feature Type
    protein coding gene
  • IDs
    MGI:97473
    NCBI Gene: 18478
  • Alliance
    genome feature page
  • Transcription Start Sites
    9 TSS
  • Candidate for QTL
    3 QTL
Location &
Maps
more
  • Sequence Map
    Chr10:87357657-87419998 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 43.64 cM, cytoband C2-D1
  • Mapping Data
    26 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1826 from dbSNP Build 142
  • Strain Annotations
    19
  • PCR
    1
  • RFLP
    12
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97473
 protein coding gene Chr10:87357657-87419999 (+)
129S1/SvImJ ENSMUSG00200027742
 protein coding gene Chr10:83854956-83917295 (+)
A/J ENSMUSG00195020785
 protein coding gene Chr10:84302184-84364024 (+)
AKR/J ENSMUSG00220021026
 protein coding gene Chr10:83908653-83970495 (+)
BALB/cJ ENSMUSG00180031872
 protein coding gene Chr10:84305227-84367086 (+)
C3H/HeJ ENSMUSG00175021772
 protein coding gene Chr10:84195723-84257560 (+)
C57BL/6NJ ENSMUSG00215012476
 protein coding gene Chr10:83849701-83912060 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015700
 protein coding gene Chr10:81366074-81432169 (+)
CAST/EiJ ENSTCUG00005031234
 protein coding gene Chr10:83582631-83644111 (+)
CBA/J ENSMUSG00210030463
 protein coding gene Chr10:84036181-84098013 (+)
DBA/2J ENSMUSG00185037494
 protein coding gene Chr10:84260142-84322482 (+)
FVB/NJ ENSMUSG00205017120
 protein coding gene Chr10:83897221-83957956 (+)
JF1/MsJ ENSUMUG00000012354
 protein coding gene Chr10:85606234-85666982 (+)
LP/J ENSMUSG00230016683
 protein coding gene Chr10:86137549-86199883 (+)
NOD/ShiLtJ ENSMUSG00190016484
 protein coding gene Chr10:84287670-84349501 (+)
NZO/HlLtJ ENSMUSG00225050124
 protein coding gene Chr10:90410807-90472636 (+)
PWK/PhJ ENSLUMG00010020721
 protein coding gene Chr10:83894293-83956343 (+)
SPRET/EiJ ENSMSPG00010028064
 protein coding gene Chr10:85350261-85412028 (+)
WSB/EiJ ENSIUOG00005034616
 protein coding gene Chr10:83966264-84028632 (+)



Homology
more
  • Human Ortholog
    PAH, phenylalanine hydroxylase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PAH, phenylalanine hydroxylase
  • Synonyms
    PH, PKU, PKU1
  • Links
    NCBI Gene ID: 5053
    UniProt: P00439

  • Chr Location
    12q23.2; chr12:102836889-102958441 (-)  GRCh38
  • MGI Vertebrate Homology
    Pah stringent orthology
    1 human;1 mouse;1 rat;1 zebrafish
  • HCOP
    vertebrate homology predictions: PAH
  • Protein SuperFamily
    TH
  • Gene Tree
    Pah
Human Diseases
more
  • Diseases
    1 with Pah mouse models; 2 with human PAH associations

Human Disease Mouse Models
      
IDs
 View 5 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    51 phenotypes from 7 alleles in 8 genetic backgrounds
    80 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
    25
  • GO References
    11
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    724
  • Tissues
    102
  • cDNA Data
    242
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020051 Ensembl Gene Model | MGI Sequence Detail 62342 C57BL/6J ±  kb
    transcript ENSMUST00000020241 Ensembl | MGI Sequence Detail 2142 Not Applicable  
    polypeptide ENSMUSP00000020241 Ensembl | MGI Sequence Detail 453 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000012234 phenylalanine-4-hydroxylase
      (term hierarchy)
    • EC
      1.14.16.1
    • InterPro Domains
      IPR002912 ACT domain
      IPR045865 ACT-like domain
      IPR001273 Aromatic amino acid hydroxylase
      IPR019774 Aromatic amino acid hydroxylase, C-terminal
      IPR018301 Aromatic amino acid hydroxylase, iron/copper binding site
      IPR036951 Aromatic amino acid hydroxylase superfamily
      IPR036329 Aromatic amino acid monoxygenase, C-terminal domain superfamily
      IPR041912 Eukaryotic phenylalanine-4-hydroxylase, catalytic domain
      IPR005961 Phenylalanine-4-hydroxylase, tetrameric form
      IPR019773 Tyrosine 3-monooxygenase-like
    • GlyGen
      P16331 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 253
      Genomic 1
      cDNA 248
      Primer pair 2
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13126, MGI:2143804
    References
    more
    • Summaries
      All 156
      Developmental Gene Expression 6
      Diseases 6
      Gene Ontology 11
      Phenotypes 80
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:380539 Vonada A, et al., Complete correction of murine phenylketonuria by selection-enhanced hepatocyte transplantation. Hepatology. 2024 May 1;79(5):1088-1097
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory