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Aliases for FAH Gene

Aliases for FAH Gene

  • Fumarylacetoacetate Hydrolase 2 3 4 5
  • Fumarylacetoacetase 2 3
  • Beta-Diketonase 3 4
  • EC 4 61
  • FAA 3 4
  • Fumarylacetoacetate Hydrolase (Fumarylacetoacetase) 3

External Ids for FAH Gene

Previous GeneCards Identifiers for FAH Gene

  • GC15P076401
  • GC15P073602
  • GC15P078021
  • GC15P078161
  • GC15P078232
  • GC15P080445
  • GC15P057208

Summaries for FAH Gene

Entrez Gene Summary for FAH Gene

  • This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008]

GeneCards Summary for FAH Gene

FAH (Fumarylacetoacetate Hydrolase) is a Protein Coding gene. Diseases associated with FAH include Tyrosinemia, Type I and Tyrosinemia. Among its related pathways are Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. GO annotations related to this gene include fumarylacetoacetase activity.

Gene Wiki entry for FAH Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAH Gene

Genomics for FAH Gene

Regulatory Elements for FAH Gene

Enhancers for FAH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F080174 1.1 Ensembl ENCODE 15.3 +21.9 21946 1.6 PKNOX1 ZNF48 RAD21 RFX5 GLIS2 SCRT2 FOS EGR2 ZNF263 CEBPB FAH ZFAND6 RNU6-667P ENSG00000259967 GC15P080189
GH15F080159 1.6 FANTOM5 Ensembl ENCODE 9.8 +8.9 8947 3.7 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B DMAP1 YY1 FOS SP5 FAH BCL2A1 ZFAND6 ENSG00000259967
GH15F080151 1.1 ENCODE 11.8 +1.7 1656 5.1 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A YBX1 ZNF2 YY1 ZNF207 ENSG00000259649 FAH ZFAND6 ENSG00000259967
GH15F080058 1.3 Ensembl ENCODE 9.7 -91.2 -91224 5.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 FOS ZNF263 SP3 SP5 ENSG00000259649 BCL2A1 FAH MESDC1 ZFAND6 GC15M080141
GH15F080105 0.9 Ensembl ENCODE 9.7 -46.6 -46582 1.8 JUN GFI1B CEBPB ZBTB40 EP300 JUND GATA3 STAT3 HMBOX1 FOS FAH GC15M080141 ZFAND6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAH on UCSC Golden Path with GeneCards custom track

Promoters for FAH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for FAH Gene

80,152,490 bp from pter
80,186,946 bp from pter
34,457 bases
Plus strand

Genomic View for FAH Gene

Genes around FAH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAH Gene

Proteins for FAH Gene

  • Protein details for FAH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B2R9X1
    • D3DW95
    • Q53XA7

    Protein attributes for FAH Gene

    419 amino acids
    Molecular mass:
    46374 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for FAH Gene


neXtProt entry for FAH Gene

Selected DME Specific Peptides for FAH Gene


Post-translational modifications for FAH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAH Gene

Domains & Families for FAH Gene

Suggested Antigen Peptide Sequences for FAH Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the FAH family.
  • Belongs to the FAH family.
genes like me logo Genes that share domains with FAH: view

No data available for Gene Families for FAH Gene

Function for FAH Gene

Molecular function for FAH Gene

GENATLAS Biochemistry:
fumarylacetoacetate hydrolase,catalyzing the fifth step of tyrosine catabolism
UniProtKB/Swiss-Prot CatalyticActivity:
4-fumarylacetoacetate + H(2)O = acetoacetate + fumarate.

Enzyme Numbers (IUBMB) for FAH Gene

Gene Ontology (GO) - Molecular Function for FAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004334 fumarylacetoacetase activity EXP,IEA 8364576
GO:0005515 protein binding IPI 25416956
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FAH: view
genes like me logo Genes that share phenotypes with FAH: view

Human Phenotype Ontology for FAH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FAH Gene

MGI Knock Outs for FAH:

Animal Model Products

miRNA for FAH Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for FAH Gene

Localization for FAH Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAH gene
Compartment Confidence
extracellular 5
cytosol 5
mitochondrion 2
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for FAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with FAH: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FAH Gene

Pathways & Interactions for FAH Gene

genes like me logo Genes that share pathways with FAH: view

UniProtKB/Swiss-Prot P16930-FAAA_HUMAN

  • Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 6/6.

Gene Ontology (GO) - Biological Process for FAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006527 arginine catabolic process IEA --
GO:0006559 L-phenylalanine catabolic process IEA,TAS --
GO:0006572 tyrosine catabolic process IEA --
GO:0008152 metabolic process IEA --
GO:0009072 aromatic amino acid family metabolic process IEA --
genes like me logo Genes that share ontologies with FAH: view

No data available for SIGNOR curated interactions for FAH Gene

Drugs & Compounds for FAH Gene

(10) Drugs for FAH Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
SB-649868 Experimental Pharma Antagonist, Target 0
Acetoacetic acid Experimental Pharma Target 0
4-[Hydroxy-[Methyl-Phosphinoyl]]-3-Oxo-Butanoic Acid Experimental Pharma Target 0
calcium Nutra 0

(14) Additional Compounds for FAH Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Fumarylacetoacetic acid
  • (E)-4,6-dioxo-2-Octenedioate
  • (E)-4,6-dioxo-2-Octenedioic acid
  • 4-Fumaryl-acetoacetate
  • 4-Fumarylacetoacetate
  • Fumarylacetoacetate
genes like me logo Genes that share compounds with FAH: view

Transcripts for FAH Gene

Unigene Clusters for FAH Gene

Fumarylacetoacetate hydrolase (fumarylacetoacetase):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAH Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a ·
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - -
SP5: - -
SP6: -

ExUns: 15b ^ 16a · 16b

Relevant External Links for FAH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAH Gene

This gene is overexpressed in Liver (x8.7).

Protein differential expression in normal tissues from HIPED for FAH Gene

This gene is overexpressed in Liver, secretome (32.4) and Nasopharynx (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FAH Gene

NURSA nuclear receptor signaling pathways regulating expression of FAH Gene:


SOURCE GeneReport for Unigene cluster for FAH Gene:


mRNA Expression by UniProt/SwissProt for FAH Gene:

Tissue specificity: Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues.
genes like me logo Genes that share expression patterns with FAH: view

No data available for Protein tissue co-expression partners for FAH Gene

Orthologs for FAH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FAH Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FAH 34 35
  • 99.2 (n)
(Bos Taurus)
Mammalia FAH 34 35
  • 89.34 (n)
(Canis familiaris)
Mammalia FAH 34 35
  • 87.91 (n)
(Rattus norvegicus)
Mammalia Fah 34
  • 84.81 (n)
(Mus musculus)
Mammalia Fah 34 16 35
  • 84.17 (n)
(Monodelphis domestica)
Mammalia FAH 35
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia FAH 35
  • 81 (a)
(Gallus gallus)
Aves FAH 34 35
  • 73.24 (n)
(Anolis carolinensis)
Reptilia FAH 35
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fah 34
  • 70.75 (n)
Str.14142 34
African clawed frog
(Xenopus laevis)
Amphibia fah-prov 34
(Danio rerio)
Actinopterygii fah 34 35
  • 71.1 (n)
wufb59b12 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1256 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005865 34
  • 61.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta Faa 36 34 35
  • 60.7 (n)
(Caenorhabditis elegans)
Secernentea K10C2.4 36
  • 64 (a)
fah-1 34 35
  • 59.89 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G12050 34
  • 58.9 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12826 34
(Oryza sativa)
Liliopsida Os02g0196800 34
  • 58.27 (n)
(Hordeum vulgare)
Liliopsida Hv.4554 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6721 35
  • 67 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05537 34
  • 54.87 (n)
Species where no ortholog for FAH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FAH Gene

Gene Tree for FAH (if available)
Gene Tree for FAH (if available)

Paralogs for FAH Gene

(1) SIMAP similar genes for FAH Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with FAH: view

No data available for Paralogs for FAH Gene

Variants for FAH Gene

Sequence variations from dbSNP and Humsavar for FAH Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs121965073 Tyrosinemia 1 (TYRSN1) [MIM:276700], Pathogenic 80,153,101(+) CCACA(A/G/T)CCTGC reference, missense
rs121965074 Tyrosinemia 1 (TYRSN1) [MIM:276700], Pathogenic 80,162,282(+) GCATG(A/C)TACCA reference, missense
rs121965077 Tyrosinemia 1 (TYRSN1) [MIM:276700], Pathogenic 80,181,120(+) AGACC(A/G)GGAAG reference, missense
rs121965078 Tyrosinemia 1 (TYRSN1) [MIM:276700], Pathogenic 80,173,143(+) GAAGC(A/G)GGTAA reference, missense
rs370634385 Tyrosinemia 1 (TYRSN1) [MIM:276700] 80,175,058(+) CCTAC(A/C)CATTT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FAH Gene

Variant ID Type Subtype PubMed ID
nsv817700 CNV loss 17921354
nsv1634 CNV deletion 18451855
nsv1071223 CNV deletion 25765185
esv3637014 CNV loss 21293372

Variation tolerance for FAH Gene

Residual Variation Intolerance Score: 39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.67; 45.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAH Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAH Gene

Disorders for FAH Gene

MalaCards: The human disease database

(13) MalaCards diseases for FAH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tyrosinemia, type i
  • tyrosinemia type i
  • hereditary tyrosinemia
liver disease
  • disorder of liver
tyrosinemia, type ii
  • tyrosinemia type ii
  • alcaptonuria
- elite association - COSMIC cancer census association via MalaCards
Search FAH in MalaCards View complete list of genes associated with diseases


  • Tyrosinemia 1 (TYRSN1) [MIM:276700]: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures. Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment. {ECO:0000269 PubMed:11196105, ECO:0000269 PubMed:11476670, ECO:0000269 PubMed:1401056, ECO:0000269 PubMed:20003495, ECO:0000269 PubMed:7550234, ECO:0000269 PubMed:7757089, ECO:0000269 PubMed:7942842, ECO:0000269 PubMed:7977370, ECO:0000269 PubMed:8005583, ECO:0000269 PubMed:8318997, ECO:0000269 PubMed:8364576, ECO:0000269 PubMed:8557261, ECO:0000269 PubMed:9633815}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for FAH Gene

tyrosinemia I,hepatorenal

Relevant External Links for FAH

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with FAH: view

Publications for FAH Gene

  1. Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15. (PMID: 1998338) Phaneuf D. … Tanguay R.M. (Am. J. Hum. Genet. 1991) 2 3 4 22 64
  2. Nucleotide sequence of cDNA encoding human fumarylacetoacetase. (PMID: 2336361) Agsteribbe E. … Berger R. (Nucleic Acids Res. 1990) 2 3 4 22 64
  3. Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1. (PMID: 11278491) Bergeron A. … Tanguay R.M. (J. Biol. Chem. 2001) 3 4 22 64
  4. A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. (PMID: 11476670) Dreumont N. … Tanguay R.M. (BMC Genet. 2001) 3 4 22 64
  5. Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. (PMID: 11196105) Kim S.Z. … Levy H.L. (J. Inherit. Metab. Dis. 2000) 3 4 22 64

Products for FAH Gene

Sources for FAH Gene

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