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Aliases for FAH Gene

Aliases for FAH Gene

  • Fumarylacetoacetate Hydrolase (Fumarylacetoacetase) 2 3
  • Beta-Diketonase 3 4
  • EC 4 63
  • FAA 3 4
  • Fumarylacetoacetate Hydrolase 4
  • 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 (Fumarylacetoacetase)) is a Protein Coding gene. Diseases associated with FAH include tyrosinemia, type i and tyrosinemia. Among its related pathways are Metabolism and Metabolism.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for FAH Gene at MOPED

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

Antibody Products

Domains 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:0003824 catalytic activity --
GO:0004334 fumarylacetoacetase activity EXP --
GO:0005515 protein binding IPI 25416956
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

Animal Models for FAH Gene

MGI Knock Outs for FAH:

miRNA for FAH Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FAH

In Situ Assay Products

Flow Cytometry Products

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

Localization for FAH Gene

Subcellular locations from

Jensen Localization Image for FAH Gene COMPARTMENTS Subcellular localization image for FAH gene
Compartment Confidence
cytosol 4
cytoskeleton 1
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 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 for FAH Gene

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

Pathways by source for FAH Gene

2 KEGG pathways for FAH Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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 --
GO:0008152 metabolic process --
GO:0009072 aromatic amino acid family metabolic process --
genes like me logo Genes that share ontologies with FAH: view

Compounds for FAH Gene

(3) Drugbank Compounds for FAH Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
4-[Hydroxy-[Methyl-Phosphinoyl]]-3-Oxo-Butanoic Acid
446167 Target experimental
Acetoacetic Acid
541-50-4 96 Target experimental
110-17-8 5460307 Target experimental

(6) HMDB Compounds for FAH Gene

Compound Synonyms Cas Number PubMed IDs
4-Fumarylacetoacetic acid
  • (E)-4,6-dioxo-2-Octenedioate
Acetoacetic acid
  • 3-Ketobutyrate
  • Ca
Fumaric acid
  • (2E)-But-2-enedioate
  • Magnesium

(19) Novoseek inferred chemical compound relationships for FAH Gene

Compound -log(P) Hits PubMed IDs
fumarylacetoacetate 99.4 105
succinylacetone 96.5 12
succinylacetoacetate 93.6 1
2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione 92.2 1
maleylacetoacetate 91.2 2
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FAH

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 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 (8.7).

Protein differential expression in normal tissues for FAH Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FAH Gene

SOURCE GeneReport for Unigene cluster for FAH Gene Hs.73875

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 expressions with FAH: view

Primer Products

In Situ Assay Products

No data available for 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
(Bos Taurus)
Mammalia FAH 35
  • 89.34 (n)
  • 91.35 (a)
FAH 36
  • 91 (a)
(Canis familiaris)
Mammalia FAH 35
  • 87.91 (n)
  • 89.71 (a)
FAH 36
  • 90 (a)
(Mus musculus)
Mammalia Fah 35
  • 84.17 (n)
  • 88.78 (a)
Fah 16
Fah 36
  • 89 (a)
(Pan troglodytes)
Mammalia FAH 35
  • 99.2 (n)
  • 99.05 (a)
FAH 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Fah 35
  • 84.81 (n)
  • 88.54 (a)
(Monodelphis domestica)
Mammalia FAH 36
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia FAH 36
  • 81 (a)
(Gallus gallus)
Aves FAH 35
  • 73.24 (n)
  • 80.77 (a)
FAH 36
  • 80 (a)
(Anolis carolinensis)
Reptilia FAH 36
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fah 35
  • 70.75 (n)
  • 76.44 (a)
Str.14142 35
African clawed frog
(Xenopus laevis)
Amphibia fah-prov 35
(Danio rerio)
Actinopterygii fah 35
  • 71.1 (n)
  • 75.43 (a)
wufb59b12 35
fah 36
  • 77 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1256 35
fruit fly
(Drosophila melanogaster)
Insecta Faa 37
  • 63 (a)
Faa 35
  • 60.7 (n)
  • 61.52 (a)
Faa 36
  • 60 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005865 35
  • 61.14 (n)
  • 62.44 (a)
(Caenorhabditis elegans)
Secernentea K10C2.4 37
  • 64 (a)
fah-1 35
  • 59.89 (n)
  • 65.13 (a)
fah-1 36
  • 64 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G12050 35
  • 58.9 (n)
  • 58.74 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12826 35
(Hordeum vulgare)
Liliopsida Hv.4554 35
(Oryza sativa)
Liliopsida Os02g0196800 35
  • 58.27 (n)
  • 58.6 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05537 35
  • 54.87 (n)
  • 51.35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6721 36
  • 67 (a)
Species with no ortholog for FAH:
  • 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 MAF
rs733679 -- 80,160,544(+) ATCTG(G/T)GTGGA intron-variant
rs1030865 -- 80,179,164(-) AGGAT(A/G)TGGAG intron-variant
rs1049165 -- 80,181,129(+) AGTTT(C/T)TGCTG reference, synonymous-codon
rs1049181 -- 80,186,247(+) CAAGC(A/C)CCCCT utr-variant-3-prime
rs1049194 -- 80,186,303(+) CGCCA(C/T)TCAGT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv1634 CNV Loss 18451855
nsv817700 CNV Loss 17921354

Relevant External Links for FAH Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

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

Disorders for FAH Gene

(1) OMIM Diseases for FAH Gene (613871)


  • 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.

(2) University of Copenhagen DISEASES for FAH Gene

(14) Novoseek inferred disease relationships for FAH Gene

Disease -log(P) Hits PubMed IDs
tyrosinemia type i 98.3 38
tyrosinemias 98 45
tyrosinemia type ii 80.3 1
rickets 69.4 1
metabolic disorder 66.6 12

Genatlas disease for FAH Gene

tyrosinemia I,hepatorenal

Relevant External Links for FAH

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
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 23
  2. Nucleotide sequence of cDNA encoding human fumarylacetoacetase. (PMID: 2336361) Agsteribbe E. … Berger R. (Nucleic Acids Res. 1990) 2 3 4 23
  3. Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. (PMID: 7550234) Hahn S.H. … Gahl W.A. (Hum. Mutat. 1995) 3 4 23
  4. Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1. (PMID: 7942842) Rootwelt H. … Kvittingen E.A. (Am. J. Hum. Genet. 1994) 3 4 23
  5. Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I. (PMID: 7977370) Rootwelt H. … Kvittingen E.A. (Am. J. Hum. Genet. 1994) 3 4 23

Products for FAH Gene

Sources for FAH Gene

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