About   Help   FAQ
Fah
Gene Detail
Symbol

Name
ID
Fah
fumarylacetoacetate hydrolase
MGI:95482
Feature Type
protein coding gene
Genetic Map
Chromosome 7
48.36 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr7:84585159-84606722 bp, - strand
From VEGA annotation of GRCm38

  21564 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:110  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Fah

Human
homologs
Human Homolog FAH, fumarylacetoacetate hydrolase (fumarylacetoacetase)
NCBI Gene ID 2184
neXtProt AC  NX_P16930
Human Chr (Location)  15q25.1; chr15:80152891-80186582 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human FAH
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Chemically induced (ENU)(2) Gene trapped(2) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for targeted, deletion, and ENU-induced mutations die perinatally with liver and kidney dysfunction, hypoglycemia, and grossly altered liver mRNA expression.
 
Human Diseases Modeled Using Mouse Fah (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(1)
Interactions
Fah interacts with 18 markers (Mir31, Mir188, Mir207, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (11 annotations)
Process arginine catabolic process, aromatic amino acid family metabolic process, ...
Component extracellular vesicular exosome
Function catalytic activity, fumarylacetoacetase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (132)    Tissues (104)    Images (33)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 126
RT-PCR 6
cDNA source data(166)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(182) Genomic(15) cDNA(166) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000025072 (Evidence)
Ensembl Gene ModelENSMUSG00000030630 (Evidence)
Entrez Gene14085 (Evidence)
UniGene3798
DFCITC1574751, TC1674155
DoTSDT.111018026, DT.495228, DT.94176516, DT.97333930
NIA Mouse Gene IndexU028813
EC3.7.1.2
PDB1HYO, 1QCN, 1QCO, 1QQJ, 2HZY
Consensus CDS ProjectCCDS21418.1
International Mouse Knockout Project StatusFah
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025072 VEGA Gene Model | MGI Sequence Detail 21564 C57BL/6J ±  kb
transcript OTTMUST00000061684 VEGA | MGI Sequence Detail 1470 Not Applicable 
polypeptide OTTMUSP00000030308 VEGA | MGI Sequence Detail 419 Not Applicable 

For the selected sequences
All sequences(38) RefSeq(2) UniProt(3)
Polymorphisms
SNPs within 2kb(301 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR005959 Fumarylacetoacetase
InterPro IPR002529 Fumarylacetoacetase, C-terminal
InterPro IPR011234 Fumarylacetoacetase, C-terminal-related
InterPro IPR015377 Fumarylacetoacetase, N-terminal
Protein Ontology PR:000007323 fumarylacetoacetase
References
(Earliest) J:13711 Guenet JL, fri. Mouse News Lett. 1977;56:57
(Latest) J:207452 Yin H, et al., Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype. Nat Biotechnol. 2014 Mar 30;
All references(79)
Disease annotation references (9)
Other
accession IDs
MGD-MRK-9709

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
12/16/2014
MGI 5.20
The Jackson Laboratory