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] See more...

Aliases for FAH Gene

Aliases for FAH Gene

  • Fumarylacetoacetate Hydrolase 2 3 4 5
  • Fumarylacetoacetase 2 3 4
  • Beta-Diketonase 3 4
  • EC 4 51
  • FAA 3 4
  • Fumarylacetoacetate Hydrolase (Fumarylacetoacetase) 3
  • Epididymis Secretory Sperm Binding Protein 3
  • FAH 5

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 Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include fumarylacetoacetase activity. An important paralog of this gene is FAHD2A.

Gene Wiki entry for FAH Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAH Gene

Genomics for FAH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAH Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J080151 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 611.8 +1.7 1655 5.1 ARHGAP35 SP1 HNRNPL PRDM10 REST ZNF512 LEF1 IKZF1 ZNF692 BACH1 FAH ENSG00000259649 ZFAND6 ENSG00000259967 CTXND1
GH15J080152 Promoter 0.3 Ensembl 600.7 -1.3 -1289 0.4 FAH piR-35255-002 ZFAND6
GH15J080058 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.8 -91.5 -91464 5 SP1 CREB1 GATAD2A PRDM10 ZNF629 IKZF1 POLR2A BACH1 LARP7 RBFOX2 BCL2A1 NONHSAG017605.2 ZFAND6 lnc-BCL2A1-4 FAH TLNRD1 MN298114-074
GH15J080070 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 9.4 -80.1 -80090 3.2 SP1 CREB1 GATAD2A ATF7 PRDM10 SOX13 FOS DDX20 PRDM1 ZNF143 ZFAND6 BCL2A1 FAH MN298114-074 NONHSAG017605.2
GH15J080174 Enhancer 1.1 Ensembl ENCODE dbSUPER 15.4 +21.9 21946 1.6 CEBPG CTCF TEAD4 JUND FOXA1 ZNF143 ZNF24 REST SP1 TRIM22 FAH ZFAND6 RNU6-667P ENSG00000259967 lnc-FAH-1 CTXND1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAH

Top Transcription factor binding sites by QIAGEN in the FAH gene promoter:
  • AhR
  • Arnt
  • HNF-1
  • HNF-1A
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for FAH Gene

Genomic Locations for FAH Gene
34,460 bases
Plus strand
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

  • Ubiquitination at Lys241
  • Modification sites at PhosphoSitePlus

Other Protein References for FAH Gene

Domains & Families for FAH Gene

Gene Families for FAH Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for FAH Gene

Suggested Antigen Peptide Sequences for FAH Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51912, highly similar to Fumarylacetoacetase (EC (B7Z4W2_HUMAN)
  • Fumarylacetoacetate hydrolase (FAAA_HUMAN)

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

Function for FAH Gene

Molecular function for FAH Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4-fumarylacetoacetate + H2O = acetoacetate + fumarate + H(+); Xref=Rhea:RHEA:10244, ChEBI:CHEBI:13705, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:18034, ChEBI:CHEBI:29806; EC=; Evidence={ECO:0000250|UniProtKB:P35505};.
GENATLAS Biochemistry:
fumarylacetoacetate hydrolase,catalyzing the fifth step of tyrosine catabolism

Enzyme Numbers (IUBMB) for FAH Gene

Phenotypes From GWAS Catalog for FAH Gene

Gene Ontology (GO) - Molecular Function for FAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004334 fumarylacetoacetase activity IEA,IBA 21873635
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:
  • Fah Fah<tm1Mgo>

Animal Model Products

CRISPR Products

miRNA for FAH Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAH

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 4
cytosol 4
cytoskeleton 2
mitochondrion 2
nucleus 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 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,IBA 21873635
GO:0009072 aromatic amino acid family metabolic process IEA --
GO:1902000 homogentisate catabolic process IBA 21873635
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
Magnesium Approved, Experimental, Investigational Pharma 0
Water Approved Pharma 0
Acetoacetic acid Experimental Pharma Target 0
Maleic acid Experimental, Investigational Pharma Target 336
4-[Hydroxy-[Methyl-Phosphinoyl]]-3-Oxo-Butanoic Acid Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Maleylacetoacetic acid
  • 4-Maleylacetoacetate
  • 4-Maleylacetoacetic acid
  • Maleylacetoacetate
28613-33-4, 5698-52-2
genes like me logo Genes that share compounds with FAH: view

Transcripts for FAH Gene

mRNA/cDNA for FAH Gene

13 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAH

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

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, MaxQB, and MOPED for FAH Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAH

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.

Evidence on tissue expression from TISSUES for FAH Gene

  • Liver(4.8)
  • Intestine(4.4)
  • Kidney(3.1)
  • Blood(2.7)
  • Skin(2.5)
  • Muscle(2.3)
  • Bone marrow(2.3)
  • Heart(2.2)
  • Nervous system(2.2)
  • Lung(2.1)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FAH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cranial nerve
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • salivary gland
  • skull
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
  • pelvis
  • testicle
  • ureter
  • urinary bladder
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
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 30 31
  • 99.2 (n)
(Bos Taurus)
Mammalia FAH 30 31
  • 89.34 (n)
(Canis familiaris)
Mammalia FAH 30 31
  • 87.91 (n)
(Rattus norvegicus)
Mammalia Fah 30
  • 84.81 (n)
(Mus musculus)
Mammalia Fah 30 17 31
  • 84.17 (n)
(Monodelphis domestica)
Mammalia FAH 31
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia FAH 31
  • 81 (a)
(Gallus gallus)
Aves FAH 30 31
  • 73.24 (n)
(Anolis carolinensis)
Reptilia FAH 31
  • 80 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fah 30
  • 70.75 (n)
Str.14142 30
African clawed frog
(Xenopus laevis)
Amphibia fah-prov 30
(Danio rerio)
Actinopterygii fah 30 31
  • 71.1 (n)
wufb59b12 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1256 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005865 30
  • 61.14 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Faa 30 31 32
  • 60.7 (n)
(Caenorhabditis elegans)
Secernentea K10C2.4 32
  • 64 (a)
fah-1 30 31
  • 59.89 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G12050 30
  • 58.9 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12826 30
(Oryza sativa)
Liliopsida Os02g0196800 30
  • 58.27 (n)
(Hordeum vulgare)
Liliopsida Hv.4554 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6721 31
  • 67 (a)
Bread mold
(Neurospora crassa)
Ascomycetes NCU05537 30
  • 54.87 (n)
Species where no ortholog for FAH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Evolutionary constrained regions (ECRs) for FAH: view image

Paralogs for FAH Gene

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

Variants for FAH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAH Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
635516 Pathogenic: Tyrosinemia type I 80,158,059(+) GCC/G FRAMESHIFT_VARIANT
646736 Likely Pathogenic: Tyrosinemia type I 80,168,143(+) GATGACTGTGAGTGAC SPLICE_DONOR_VARIANT
656983 Pathogenic: Tyrosinemia type I 80,180,140(+) T/TG FRAMESHIFT_VARIANT
659717 Likely Pathogenic: Tyrosinemia type I 80,160,461(+) T/G SPLICE_DONOR_VARIANT
662972 Uncertain Significance: Tyrosinemia type I 80,162,288(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for FAH Gene

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

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

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)

Additional Variant Information for FAH Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for FAH Gene

MalaCards: The human disease database

(17) MalaCards diseases for FAH Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tyrosinemia, type i
  • tyrsn1
  • hereditary tyrosinemia
tyrosinemia, type ii
  • tyrsn2
liver disease
  • disorder of liver
  • aku
- 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:11278491, 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

Additional Disease Information for FAH

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 RM (American journal of human genetics 1991) 2 3 4 23
  2. Nucleotide sequence of cDNA encoding human fumarylacetoacetase. (PMID: 2336361) Agsteribbe E … Berger R (Nucleic acids research 1990) 2 3 4 23
  3. A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. (PMID: 11476670) Dreumont N … Tanguay RM (BMC genetics 2001) 3 4 23
  4. Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1. (PMID: 11278491) Bergeron A … Tanguay RM (The Journal of biological chemistry 2001) 3 4 23
  5. Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. (PMID: 11196105) Kim SZ … Levy HL (Journal of inherited metabolic disease 2000) 3 4 23

Products for FAH Gene

Sources for FAH Gene