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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
  • Gene Overview
    MyGene.info: FAH
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:84585159-84605942 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • 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 Chr7:84585159-84606722 (-)
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
    10
  • Human Ortholog
    FAH, fumarylacetoacetate hydrolase
    Orthology source: HomoloGene, HGNC
  • Links
    NCBI Gene ID: 2184
    neXtProt AC: NX_P16930
    UniProt: P16930

  • Chr Location
    15q25.1; chr15:80152891-80186582 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 110
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: FAH
  • Gene Tree
    Fah
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
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  • Phenotype Summary
    42 phenotypes from 4 alleles in 8 genetic backgrounds
    19 phenotypes from multigenic genotypes
    1 images
    67 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    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 C57BL/6  
    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 117
      Developmental Gene Expression 4
      Diseases 3
      Gene Ontology 6
      Phenotypes 67
    • 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:262087 Winer BY, et al., Recapitulation of treatment response patterns in a novel humanized mouse model for chronic hepatitis B virus infection. Virology. 2017 Feb;502:63-72

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory