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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
    gene 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
    293 from dbSNP Build 142
  • Strain Annotations
    18
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 MGP_129S1SvImJ_G0032459
 protein coding gene Chr7:86754346-86777943 (-)
A/J MGP_AJ_G0032436
 protein coding gene Chr7:84689475-84710966 (-)
AKR/J MGP_AKRJ_G0032373
 protein coding gene Chr7:86640950-86662409 (-)
BALB/cJ MGP_BALBcJ_G0032449
 protein coding gene Chr7:84347573-84369446 (-)
C3H/HeJ MGP_C3HHeJ_G0032163
 protein coding gene Chr7:87180875-87202439 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032940
 protein coding gene Chr7:90100029-90127447 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029948
 protein coding gene Chr7:87014686-87036267 (-)
CAST/EiJ MGP_CASTEiJ_G0031489
 protein coding gene Chr7:78171339-78195125 (-)
CBA/J MGP_CBAJ_G0032128
 protein coding gene Chr7:93129608-93151140 (-)
DBA/2J MGP_DBA2J_G0032283
 protein coding gene Chr7:83175215-83196718 (-)
FVB/NJ MGP_FVBNJ_G0032237
 protein coding gene Chr7:83124090-83145541 (-)
LP/J MGP_LPJ_G0032364
 protein coding gene Chr7:88027221-88049413 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032274
 protein coding gene Chr7:93172048-93194037 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032960
 protein coding gene Chr7:86007230-86029153 (-)
PWK/PhJ MGP_PWKPhJ_G0031210
 protein coding gene Chr7:76430559-76452573 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031052
 protein coding gene Chr7:73001633-73023069 (-)
WSB/EiJ MGP_WSBEiJ_G0031606
 protein coding gene Chr7:86386348-86409669 (-)



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
    neXtProt AC: NX_P16930
    UniProt: P16930

  • Chr Location
    15q25.1; chr15:80152490-80186949 (+)  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
    109 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
    11
  • GO References
    4
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
non-membrane-bounded 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
    838
  • 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 156
      Developmental Gene Expression 4
      Diseases 3
      Gene Ontology 4
      Phenotypes 109
    • 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:346584 Zwirner S, et al., First-in-class MKK4 inhibitors enhance liver regeneration and prevent liver failure. Cell. 2024 Mar 28;187(7):1666-1684.e26
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory