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Fah Gene Detail
Summary
  • Symbol
    Fah
  • Name
    fumarylacetoacetate hydrolase
  • Synonyms
    swst
  • Feature Type
    protein coding gene
  • IDs
    MGI:95482
    NCBI Gene: 14085
  • Alliance
    genome feature page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:84234367-84255150 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 48.36 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    794 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95482
 protein coding gene Chr7:84234367-84255930 (-)
129S1/SvImJ ENSMUSG00200034137
 protein coding gene Chr7:71057536-71079095 (-)
A/J ENSMUSG00195041501
 protein coding gene Chr7:75514721-75536241 (-)
AKR/J ENSMUSG00220037832
 protein coding gene Chr7:69049316-69070838 (-)
BALB/cJ ENSMUSG00180034646
 protein coding gene Chr7:72220298-72241821 (-)
C3H/HeJ ENSMUSG00175030803
 protein coding gene Chr7:72950988-72972546 (-)
C57BL/6NJ ENSMUSG00215019696
 protein coding gene Chr7:72066438-72088002 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029948
 protein coding gene Chr7:87014686-87036267 (-)
CAST/EiJ ENSTCUG00005041634
 protein coding gene Chr7:75518394-75544388 (-)
CBA/J ENSMUSG00210039309
 protein coding gene Chr7:72813262-72834823 (-)
DBA/2J ENSMUSG00185045452
 protein coding gene Chr7:77124606-77146167 (-)
FVB/NJ ENSMUSG00205026122
 protein coding gene Chr7:72771204-72792742 (-)
JF1/MsJ ENSUMUG00000019018
 protein coding gene Chr7:81834095-81855919 (-)
LP/J ENSMUSG00230016832
 protein coding gene Chr7:83213961-83235516 (-)
NOD/ShiLtJ ENSMUSG00190021351
 protein coding gene Chr7:72977271-72998806 (-)
NZO/HlLtJ ENSMUSG00225009909
 protein coding gene Chr7:81488839-81510400 (-)
PWK/PhJ ENSLUMG00010034111
 protein coding gene Chr7:71422789-71444417 (-)
SPRET/EiJ ENSMSPG00010011672
 protein coding gene Chr7:71848830-71870234 (-)
WSB/EiJ ENSIUOG00005032202
 protein coding gene Chr7:73308758-73330267 (-)



Homology
more
  • Human Ortholog
    FAH, fumarylacetoacetate hydrolase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FAH, fumarylacetoacetate hydrolase
  • Links
    NCBI Gene ID: 2184
    UniProt: P16930

  • Chr Location
    15q25.1; chr15:80152292-80186990 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Fah mouse models; 1 with human FAH associations

Human Disease Mouse Models
      
IDs
 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    63 phenotypes from 5 alleles in 9 genetic backgrounds
    19 phenotypes from multigenic genotypes
    1 images
    130 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 targeted, deletion, and ENU-induced mutations die perinatally with liver and kidney dysfunction, hypoglycemia, and grossly altered liver mRNA expression. Mice homozygous for a mutation of this gene exhibit inappropriate bouts of activity during the light period of the circadian cycle.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    18
  • GO References
    8
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
    729
  • Tissues
    104
  • cDNA Data
    167
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14085 NCBI Gene Model | MGI Sequence Detail 20784 C57BL/6J ±  kb
    transcript NM_010176 RefSeq | MGI Sequence Detail 1597 ZRU/MplStud  
    polypeptide P35505 UniProt | EBI | MGI Sequence Detail 419 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 183
      Genomic 15
      cDNA 167
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-9709, MGI:3611216
    References
    more
    • Summaries
      All 187
      Developmental Gene Expression 4
      Diseases 3
      Gene Ontology 8
      Phenotypes 130
    • Earliest
      J:141526 Russell LB, et al., Analysis of the albino-locus region of the mouse. III. Time of death of prenatal lethals. Genetics. 1979 May;92(1):205-13
    • Latest
      J:387410 Park SB, et al., Hepatitis C virus infection dynamics, treatment, and lipid nanoparticle-mediated infection in humanized liver chimeric mouse models. Sci Adv. 2026 May 29;12(22):eaef1160
    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