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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
  • FAA 3 4
  • Fumarylacetoacetate Hydrolase (Fumarylacetoacetase) 3
  • EC 4

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 Metabolism. Gene Ontology (GO) annotations related to this gene include fumarylacetoacetase activity.

Gene Wiki entry for FAH Gene

Additional gene information for FAH Gene

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

Genomics for FAH Gene

GeneHancer (GH) Regulatory Elements for FAH Gene

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 2.3 EPDnew Ensembl ENCODE dbSUPER 661.8 +1.7 1655 5.1 HDGF PKNOX1 ARNT ARID4B NEUROD1 SIN3A YBX1 ZNF2 YY1 ZNF207 FAH ENSG00000259649 ZFAND6 ENSG00000259967
GH15J080070 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.4 -80.4 -80359 2.7 PKNOX1 ATF1 YY1 ZNF143 ZFP91 FOS ATF7 SP3 RXRA SP5 ZFAND6 BCL2A1 FAH GC15M080141
GH15J080058 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.8 -91.5 -91464 5 HDGF PKNOX1 CLOCK FOXA2 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 ZFAND6 BCL2A1 ENSG00000259649 FAH TLNRD1 GC15M080141
GH15J080174 Enhancer 1.2 Ensembl ENCODE dbSUPER 15.3 +21.9 21946 1.6 RB1 SIN3A IRF4 ZNF48 RAD21 RFX5 YY1 GLIS2 ARID2 SCRT2 FAH ZFAND6 RNU6-667P ENSG00000259967 GC15P080189
GH15J080159 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +8.9 8946 3.7 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B DMAP1 YY1 ZNF766 FAH BCL2A1 ZFAND6 ENSG00000259967
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for FAH Gene

Genomic Locations for FAH Gene
34,457 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

Post-translational modifications for FAH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAH Gene

No data available for DME Specific Peptides 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

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

Function for FAH Gene

Molecular function for FAH Gene

UniProtKB/Swiss-Prot CatalyticActivity:
4-fumarylacetoacetate + H(2)O = acetoacetate + fumarate.
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:0004334 fumarylacetoacetase activity IEA,EXP 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:
  • Fah Fah<tm1Mgo>

Animal Model Products

miRNA for FAH Gene

Clone 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

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 TAS --
GO:0006572 tyrosine catabolic process IEA,TAS --
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
calcium Approved Nutra 0
Water Approved Pharma 0
Magnesium Approved Nutra 0
Acetoacetic acid Experimental Pharma Target 0
SB-649868 Experimental, Investigational Pharma Antagonist, Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Fumarylacetoacetic acid
  • 4-Maleylacetoacetate
  • 4-Maleylacetoacetic acid
  • Maleylacetoacetate
genes like me logo Genes that share compounds with FAH: view

Transcripts for FAH Gene

mRNA/cDNA for FAH Gene

Unigene Clusters for FAH Gene

Fumarylacetoacetate hydrolase (fumarylacetoacetase):
Representative Sequences:

Clone 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 CGAP 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

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.

Evidence on tissue expression from TISSUES for FAH Gene

  • Liver(4.7)
  • Intestine(4.2)
  • Kidney(3)
  • Blood(2.3)

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 34 33
  • 99.2 (n)
(Bos Taurus)
Mammalia FAH 34 33
  • 89.34 (n)
(Canis familiaris)
Mammalia FAH 34 33
  • 87.91 (n)
(Rattus norvegicus)
Mammalia Fah 33
  • 84.81 (n)
(Mus musculus)
Mammalia Fah 16 34 33
  • 84.17 (n)
(Monodelphis domestica)
Mammalia FAH 34
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia FAH 34
  • 81 (a)
(Gallus gallus)
Aves FAH 34 33
  • 73.24 (n)
(Anolis carolinensis)
Reptilia FAH 34
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fah 33
  • 70.75 (n)
Str.14142 33
African clawed frog
(Xenopus laevis)
Amphibia fah-prov 33
(Danio rerio)
Actinopterygii fah 34 33
  • 71.1 (n)
wufb59b12 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1256 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005865 33
  • 61.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta Faa 34 35 33
  • 60.7 (n)
(Caenorhabditis elegans)
Secernentea K10C2.4 35
  • 64 (a)
fah-1 34 33
  • 59.89 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G12050 33
  • 58.9 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12826 33
(Oryza sativa)
Liliopsida Os02g0196800 33
  • 58.27 (n)
(Hordeum vulgare)
Liliopsida Hv.4554 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6721 34
  • 67 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05537 33
  • 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)
Evolutionary constrained regions (ECRs) for FAH: view image

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 Variation AA Info Type
rs1031317851 uncertain-significance, Hypertyrosinemia 80,181,131(+) G/T coding_sequence_variant, synonymous_variant
rs1049194 likely-benign, Hypertyrosinemia 80,186,303(+) T/C 3_prime_UTR_variant
rs1057516333 likely-pathogenic, Tyrosinemia type I 80,186,129(+) G/A splice_acceptor_variant
rs1057516408 likely-pathogenic, Tyrosinemia type I 80,159,878(+) G/A splice_donor_variant
rs1057516631 likely-pathogenic, Tyrosinemia type I 80,186,207(+) T/C/G stop_lost, terminator_codon_variant

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

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

Disorder Aliases PubMed IDs
tyrosinemia, type i
  • tyrsn1
  • hereditary tyrosinemia
liver disease
  • disorder of liver
tyrosinemia, type ii
  • tyrsn2
  • 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
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 22 58
  2. Nucleotide sequence of cDNA encoding human fumarylacetoacetase. (PMID: 2336361) Agsteribbe E … Berger R (Nucleic acids research 1990) 2 3 4 22 58
  3. 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 22 58
  4. 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 22 58
  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 22 58

Products for FAH Gene

Sources for FAH Gene

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