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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FAH Gene

protein-coding   GIFtS: 69
GCID: GC15P080445

Fumarylacetoacetate Hydrolase (Fumarylacetoacetase)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Fumarylacetoacetate Hydrolase (Fumarylacetoacetase)1 2     fumarylacetoacetase2
FAA2 3     Beta-diketonase3
EC 3.7.1.23 8     Fumarylacetoacetate Hydrolase3
beta-diketonase2     

External Ids:    HGNC: 35791   Entrez Gene: 21842   Ensembl: ENSG000001038767   OMIM: 6138715   UniProtKB: P169303   

Export aliases for FAH gene to outside databases

Previous GC identifers: GC15P076401 GC15P073602 GC15P078021 GC15P078161 GC15P078232 GC15P057208


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and tyrosinemia type i, and among its related super-pathways are Phenylalanine and tyrosine catabolism and Metabolic pathways. GO annotations related to this gene include metal ion binding.

Gene Wiki entry for FAH (Fumarylacetoacetate hydrolase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAH gene promoter:
         AhR   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   HNF-1A   Arnt   PPAR-gamma1   HNF-1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAH promoter sequence
   Search SABiosciences Chromatin IP Primers for FAH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q25.1   Ensembl cytogenetic band:  15q25.1   HGNC cytogenetic band: 15q25.1

FAH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAH gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P080445:  view genomic region     (about GC identifiers)

Start:
80,444,832 bp from pter      End:
80,479,288 bp from pter
Size:
34,457 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FAAA_HUMAN, P16930 (See protein sequence)
Recommended Name: Fumarylacetoacetase  
Size: 419 amino acids; 46374 Da
Cofactor: Calcium (By similarity)
Cofactor: Magnesium (By similarity)
Subunit: Homodimer
Secondary accessions: B2R9X1 D3DW95

Explore the universe of human proteins at neXtProt for FAH: NX_P16930

Explore proteomics data for FAH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P16930

  • 4/6 DME Specific Peptides for FAH (P16930) (see all 6)
     IGDYTDFY  HLPVGYHGR  WEYVPLGPF  PYTFDINLSV 

    FAH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FAH Protein Expression
    REFSEQ proteins: NP_000128.1  
    ENSEMBL proteins: 
     ENSP00000453152   ENSP00000385080   ENSP00000261755   ENSP00000453347   ENSP00000454271  
     ENSP00000454952  
    Reactome Protein details: P16930
    Human Recombinant Protein Products for FAH: 
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    Novus Biologicals FAH Proteins
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FAH 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    FAH for ontologies           About GeneDecksing



    FAH Antibody Products: 
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    Cloud-Clone Corp. CLIAs for FAH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR005959 Fumarylacetoacetase
     IPR015377 Fumarylacetoacetase_N
     IPR002529 Fumarylacetoacetase_C
     IPR011234 Fumarylacetoacetase_C-rel

    Graphical View of Domain Structure for InterPro Entry P16930

    ProtoNet protein and cluster: P16930

    1 Blocks protein domain: IPB002529 Fumarylacetoacetate (FAA) hydrolase

    UniProtKB/Swiss-Prot: FAAA_HUMAN, P16930
    Similarity: Belongs to the FAH family


    FAH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FAAA_HUMAN, P16930
    Catalytic activity: 4-fumarylacetoacetate + H(2)O = acetoacetate + fumarate

         Genatlas biochemistry entry for FAH:
    fumarylacetoacetate hydrolase,catalyzing the fifth step of tyrosine catabolism

         Enzyme Number (IUBMB): EC 3.7.1.21 2

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004334fumarylacetoacetase activity EXP--
    GO:0046872metal ion binding IEA--
         
    FAH for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for FAH:
     Decreased TP53 protein express  Increased cell number in G1, s 

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Fah):
     cellular  growth/size  homeostasis/metabolism  immune system  liver/biliary system 
     mortality/aging  renal/urinary system  tumorigenesis 

    FAH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Fahtm1Mgo for FAH

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FAH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FAH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FAH 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FAH 

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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FAH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1tyrosine degradation I
    tyrosine degradation I0.56
    Phenylalanine and tyrosine catabolism0.56
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Phenylalanine metabolism
    Tyrosine metabolism0.36
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for FAH
        tyrosine degradation I


    3        Reactome Pathways for FAH
        Phenylalanine and tyrosine catabolism
    Metabolism
    Metabolism of amino acids and derivatives


    2         Kegg Pathways  (Kegg details for FAH):
        Tyrosine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: FAAA_HUMAN, P16930
    Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step
    6/6


    FAH for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/24 Interacting proteins for FAH (P169303 ENSP000002617554) via UniProtKB, MINT, STRING, and/or I2D (see all 24)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    EGFRP005333, ENSP000002754934I2D: score=2 STRING: ENSP00000275493
    DLG4P783523I2D: score=1 
    FANCGENSP000003679104STRING: ENSP00000367910
    FANCAENSP000003739524STRING: ENSP00000373952
    GSTZ1ENSP000002164654STRING: ENSP00000216465
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006527arginine catabolic process IEA--
    GO:0006559L-phenylalanine catabolic process TAS--
    GO:0006572tyrosine catabolic process IEA--
    GO:0008152metabolic process ----
    GO:0009072aromatic amino acid family metabolic process ----

    FAH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FAH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FAH (FAAA)

    6 HMDB Compounds for FAH    About this table
    CompoundSynonyms CAS #PubMed Ids
    4-Fumarylacetoacetic acid(E)-4,6-dioxo-2-Octenedioate (see all 6)28613-33-4--
    Acetoacetic acid3-Ketobutyrate (see all 9)541-50-4--
    CalciumCa (see all 2)7440-70-2--
    Fumaric acid(2E)-But-2-enedioate (see all 22)110-17-8--
    MagnesiumMagnesium (see all 2)7439-95-4--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    3 DrugBank Compounds for FAH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    4-[Hydroxy-[Methyl-Phosphinoyl]]-3-Oxo-Butanoic Acid-- --target--17139284 17016423 10592235
    Acetoacetic Acid-- 541-50-4target--17139284 17016423 10592235
    Fumarate-- 110-17-8target--17139284 17016423 10592235

    10/19 Novoseek inferred chemical compound relationships for FAH gene (see all 19)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fumarylacetoacetate 99.4 165 11196105 (4), 1741389 (3), 1998338 (3), 12203990 (2) (see all 85)
    succinylacetone 96.5 13 2378358 (2), 1749221 (2), 11209059 (1), 20003495 (1) (see all 10)
    succinylacetoacetate 93.6 1 20003495 (1)
    2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione 92.2 1 16492973 (1)
    maleylacetoacetate 91.2 2 9305902 (1), 15531838 (1)
    4-hydroxyphenylpyruvate 89 3 2014797 (1), 17513424 (1), 20003495 (1)
    ntbc 87.7 1 16492973 (1)
    homogentisate 73.2 2 17513424 (1), 7568087 (1)
    tyrosine 68 65 8253377 (2), 1644288 (2), 12944177 (2), 2014797 (1) (see all 39)
    acetoacetate 57.1 7 10508789 (1), 15934927 (1), 11154690 (1), 17064256 (1)

    Search CenterWatch for drugs/clinical trials and news about FAH / FAAA

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FAH gene: 
    NM_000137.2  

    Unigene Cluster for FAH:

    Fumarylacetoacetate hydrolase (fumarylacetoacetase)
    Hs.73875  [show with all ESTs]
    Unigene Representative Sequence: NM_000137
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000558022 ENST00000407106(uc002bfm.2) ENST00000537726(uc010unl.2)
    ENST00000558767 ENST00000261755 ENST00000561369(uc021srz.1) ENST00000561421
    ENST00000539156(uc002bfn.2) ENST00000558627 ENST00000558514 ENST00000559542
    ENST00000561353(uc010bln.1) ENST00000559217(uc010blo.1)
    miRNA
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    Additional mRNA sequence: 

    AK313951.1 BC002527.1 BT007160.1 M55150.1 S63548.1 S63549.1 X51728.1 

    13 DOTS entries:

    DT.447875  DT.100809263  DT.101983859  DT.86854754  DT.100000922  DT.410206  DT.100784112  DT.100025822 
    DT.100689240  DT.121054506  DT.100025821  DT.97846191  DT.100663465 

    24/281 AceView cDNA sequences (see all 281):

    AI659260 BX117399 BG477285 CR593179 AL598665 BQ051581 CF126929 BQ051988 
    X51728 BU178854 BE514002 H57100 AL521927 AA337115 BE326748 BE787159 
    M55150 BQ052148 BM923519 CR624063 BQ051854 BQ052266 N62563 AW206951 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for FAH (see all 8)    About this scheme

    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:                                            -           -                                                                                                   

    ExUns: 15b ^ 16a · 16b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for FAH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FAH expression in normal human tissues (normalized intensities)      FAH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGATTTTCTC
    FAH Expression
    About this image


    FAH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/20 selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Cerebral Cortex
             brain/forebrain/telencephalon   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Horizontal Cells Inner Nuclear Layer
             Retina
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule

    See FAH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAH

    SOURCE GeneReport for Unigene cluster: Hs.73875

    UniProtKB/Swiss-Prot: FAAA_HUMAN, P16930
    Tissue specificity: Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues

        SABiosciences Expression via Pathway-Focused PCR Array including FAH: 
              Amino Acid Metabolism II in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for FAH gene from 9/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fah1 , 5 fumarylacetoacetate hydrolase1, 5 84.17(n)1
    88.78(a)1
      7 (48.36 cM)5
    140851  NM_010176.41  NP_034306.21 
     845851595 
    chicken
    (Gallus gallus)
    Aves FAH1 fumarylacetoacetate hydrolase (fumarylacetoacetase) 73.32(n)
    80.77(a)
      415482  XM_413855.3  XP_413855.1 
    lizard
    (Anolis carolinensis)
    Reptilia FAH6
    Uncharacterized protein
    80(a)
    1 ↔ 1
    GL343332.1(507835-536416)
    African clawed frog
    (Xenopus laevis)
    Amphibia fah-prov2 fumarylacetoacetate hydrolase 73.91(n)    BC054283.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb59b122 wufb59b12 75.49(n)   322372  BC044366.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Faa1 , 3 fumarylacetoacetase3
    Fumarylacetoacetase1
    63(a)3
    60.78(n)1
    61.52(a)1
      64A53
    455771  NM_080091.31  NP_524830.21 
    worm
    (Caenorhabditis elegans)
    Secernentea K10C2.43
    fah-11
    fumarylacetoacetase3
    Protein FAH-11
    64(a)3
    59.89(n)1
    65.13(a)1
      X(6482097-6484173)3
    1809181  NM_076682.21  NP_509083.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G120501 fumarylacetoacetase 58.9(n)
    58.74(a)
      837757  NM_101077.5  NP_172669.2 
    rice
    (Oryza sativa)
    Liliopsida AK070521.12   -- 74.04(n)    AK070521.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAH gene
    1 SIMAP similar gene for FAH using alignment to 3 protein entries:     FAAA_HUMAN (see all proteins):
    DKFZp686F13224

    FAH for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/926 SNPs in FAH are shown (see all 926)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0052244
    Tyrosinemia 1 (TYRO1)4--see VAR_0052242 F H mis40--------
    VAR_0052154
    Tyrosinemia 1 (TYRO1)4--see VAR_0052152 P T mis40--------
    VAR_0654554
    Tyrosinemia 1 (TYRO1)4--see VAR_0654552 Q R mis40--------
    VAR_0052164
    Tyrosinemia 1 (TYRO1)4--see VAR_0052162 P L mis40--------
    VAR_0052074
    Tyrosinemia 1 (TYRO1)4--see VAR_0052072 Q H mis40--------
    VAR_0052084
    Tyrosinemia 1 (TYRO1)4--see VAR_0052082 A D mis40--------
    VAR_0052054
    Tyrosinemia 1 (TYRO1)4--see VAR_0052052 N I mis40--------
    VAR_0052234
    Tyrosinemia 1 (TYRO1)4--see VAR_0052232 R G mis40--------
    VAR_0052064
    Tyrosinemia 1 (TYRO1)4--see VAR_0052062 F C mis40--------
    VAR_0052094
    Tyrosinemia 1 (TYRO1)4--see VAR_0052092 G D mis40--------

    HapMap Linkage Disequilibrium report for FAH (80444832 - 80479288 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for FAH:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv1634CNV Loss18451855
    nsv817700CNV Loss17921354


    Human Gene Mutation Database (HGMD): FAH
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing FAH
    DNA2.0 Custom Variant and Variant Library Synthesis for FAH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613871    OMIM disorders: --

    UniProtKB/Swiss-Prot: FAAA_HUMAN, P16930
  • Tyrosinemia 1 (TYRO1) [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. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 15 diseases for FAH:    About MalaCards
    tyrosinemia    tyrosinemia type i    fanca-related fanconi anemia    tyrosinemia type ii
    hyperphenylalaninemia    fanconi's anemia    fanconi syndrome    rickets
    metabolic disorders    peripheral neuropathy    liver disease    neuropathy
    hepatocellular carcinoma    adenoma    hepatitis

    2 diseases from the University of Copenhagen DISEASES database for FAH:
    Tyrosinemia     Liver disease

    FAH for disorders           About GeneDecksing

    10/14 Novoseek inferred disease relationships for FAH gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosinemia type i 98.3 52 20003495 (3), 12203990 (2), 7702626 (2), 8318997 (2) (see all 32)
    tyrosinemias 98 68 2378356 (4), 8005583 (2), 8364576 (2), 7550234 (2) (see all 36)
    tyrosinemia type ii 80.3 1 7616655 (1)
    rickets 69.4 1 11701644 (1)
    metabolic disorder 66.6 18 11154690 (2), 8162054 (2), 11209059 (1), 7545495 (1) (see all 10)
    liver failure 62.4 2 1297646 (1), 11196105 (1)
    hepatocellular carcinoma 62.3 3 11196105 (1), 11476670 (1), 9305902 (1)
    genetic disorder 60.7 16 16899383 (1), 8253377 (1), 11532983 (1), 16414314 (1) (see all 11)
    alkaptonuria 58.1 1 7568087 (1)
    liver diseases 50.6 7 8589717 (1), 8253377 (1), 1644288 (1), 11196105 (1)

    Genatlas disease: FAH
    tyrosinemia I,hepatorenal

    GeneTests: FAH
    GeneReviews: FAH
    Genetic Association Database (GAD): FAH
    Human Genome Epidemiology (HuGE) Navigator: FAH (24 documents)

    Export disorders for FAH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FAH gene, integrated from 9 sources (see all 136):
    (articles sorted by number of sources associating them with FAH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15. (PubMed id 1998338)1, 2, 3, 9 Phaneuf D....Tanguay R.M. (1991)
    2. Nucleotide sequence of cDNA encoding human fumarylacetoacetase. (PubMed id 2336361)1, 2, 3, 9 Agsteribbe E....Berger R. (1990)
    3. Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. (PubMed id 1401056)1, 2, 9 Phaneuf D....Tanguay R.M. (1992)
    4. Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1. (PubMed id 11278491)1, 2, 9 Bergeron A.... Tanguay R.M. (2001)
    5. A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. (PubMed id 11476670)1, 2, 9 Dreumont N....Tanguay R.M. (2001)
    6. Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship. (PubMed id 8557261)1, 2, 9 Ploos van Amstel J.K.... Berger R. (1996)
    7. Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase. (PubMed id 8005583)1, 2, 9 Rootwelt H....Kvittingen E.A. (1994)
    8. Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. (PubMed id 8364576)1, 2, 9 Labelle Y.... Tanguay R.M. (1993)
    9. Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I. (PubMed id 7977370)1, 2, 9 Rootwelt H.... Kvittingen E.A. (1994)
    10. Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. (PubMed id 11196105)1, 2, 9 Kim S.Z....Levy H.L. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2184 HGNC: 3579 AceView: FAH Ensembl:ENSG00000103876 euGenes: HUgn2184
    ECgene: FAH Kegg: 2184 H-InvDB: FAH

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FAH Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FAH

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FAH gene:
    Search GeneIP for patents involving FAH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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