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

FAH Gene

protein-coding   GIFtS: 65
GCID: GC15P080445

fumarylacetoacetate hydrolase (fumarylacetoacetase)
 Explore 16 diseases affiliated with
FAH via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FAH    

Aliases
for FAH gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Fumarylacetoacetate Hydrolase (Fumarylacetoacetase)1 2     Fumarylacetoacetase1
FAA2 3     Beta-Diketonase1
EC 3.7.1.23 8     Fumarylacetoacetate Hydrolase3
Beta-Diketonase1     

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


Summaries
for FAH gene

(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:
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)

Gene Wiki entry for FAH (Fumarylacetoacetate hydrolase)


Genomic Views
for FAH 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  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 plasmid: FAH 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

Proteins
for FAH gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000128.1  
    ENSEMBL proteins: 
     ENSP00000453152   ENSP00000385080   ENSP00000261755   ENSP00000453347   ENSP00000454271  
     ENSP00000454952  
    Reactome Protein details: P16930
    Human Recombinant Protein Products: 
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    Uscn 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



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    Uscn ELISAs and CLIAs for FAH

    Protein Domains /
    Families
    for FAH gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FAH for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: IPB002529 Fumarylacetoacetate (FAA) hydrolase

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


    Function
    for FAH gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: FAH 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAH (see all 7)
    OriGene shRNA RFP: FAH
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004334fumarylacetoacetase activity EXP--
    GO:0046872metal ion binding IEA--


    FAH for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Fahtm1Mgo for FAH
         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


    Pathways & Interactions
    for FAH gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1tyrosine degradation I
    		tyrosine degradation I1.00
    		Phenylalanine and tyrosine catabolism0.56
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00
    4Tyrosine metabolism
    		Tyrosine metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    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:0009072aromatic amino acid family metabolic process ----
    GO:0034641cellular nitrogen compound metabolic process TAS--


    FAH for ontologies           About GeneDecksing



    Drugs & Compounds
    for FAH gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for FAH gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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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    Inhib. RNA
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    Additional cDNA 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):

    N62563 BQ229474 BQ051854 BG122956 AI347512 BU178854 BG477285 CR600618 
    AL048038 NM_000137 AW328181 BQ052266 BQ052148 AL558508 BU679766 BE787159 
    X51728 AI057453 AW206951 AA337366 BG491713 BG033965 BF727056 M55150 

    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

    Expression
    for FAH gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGATTTTCTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    FAH expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerMature Horizontal CellsHorizontal, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    Assay Products:     
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    Orthologs
    for FAH gene

    (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 9/32 species (see all 32)    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
    		 --
    		 80(a)
    		 1 ↔ 1
    		 GL343332.1(507993-535397)
    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
    for FAH gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for FAH gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/738 NCBI SNPs in FAH are shown (see all 738)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 15 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs803388951,2
    		C,Fpathogenic80460605(+) TTCCAG/TCTAAG 1 -- spa12Minor allele frequency- T:0.00NA EU 5873
    rs803388981,2
    		Cpathogenic80465431(+) CTCTCC/TGTGGG 2 P L mis11Minor allele frequency- T:0.00NA 4552
    rs803388991,2
    		Cpathogenic80465435(+) CCGTGA/GGTGGT 2 * W stg10--------
    rs803389001,2
    		Cpathogenic80472514(+) TCAACG/AGCTGC 2 /S /G mis11Minor allele frequency- A:0.00NA 4546
    rs115550961,2
    		C,F,H,pathogenic80472526(+) ACCTGC/TGGCCG 2 R W mis1 ese315Minor allele frequency- T:0.02NS EA NA EU 7483
    rs803389011,2
    		C,pathogenic80472572(+) GGTGAA/GTATCT 1 -- int10--------
    rs1932532611,2
    		--80443394(+) GTGGAA/GATAAT 1 -- us2k10--------
    rs1840739051,2
    		--80443663(+) TGATCA/CCTGGT 1 -- us2k10--------
    rs1867235571,2
    		--80443671(+) GGTCAC/TGCCTG 1 -- us2k10--------
    rs1144373491,2
    		F,--80443679(+) CTGGTG/AGACAG 1 -- us2k11Minor allele frequency- A:0.09WA 118

    HapMap Linkage Disequilibrium report for FAH (80444832 - 80479288 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FAH
         1 CNV: 10487
    Human Gene Mutation Database (HGMD): FAH

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FAH
    DNA2.0 Custom Variant and Variant Library Synthesis for FAH

    Disorders / Diseases
    for FAH gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    FAH for disorders           About GeneDecksing

    OMIM gene information: 613871    OMIM disorders: --

    UniProtKB/Swiss-Prot: FAAA_HUMAN, P16930
  • Defects in FAH are the cause of tyrosinemia type 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

    16 diseases for FAH:    About MalaCards
    tyrosinemia    tyrosinemia type ii    tyrosinemia type i    metabolic disorders
    rickets    hyperphenylalaninemia    peripheral neuropathy    liver disease
    hepatocellular carcinoma    fanconi syndrome    neuropathy    nephropathy
    adenoma    carcinoma    hepatitis    sepsis

    1 disease from the University of Copenhagen DISEASES database for FAH:
    Tyrosinemia

    10/14 Novoseek 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
    Tyrosinemia Type I

    Human Genome Epidemiology (HuGE) Navigator: FAH (24 documents)

    Export disorders for FAH gene to outside databases

    Publications
    for FAH gene

    (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 135):
    (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)

    External Searches for FAH gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing FAH gene

    (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

    Other Databases showing FAH gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FAH gene

    (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

    Intellectual Property
    for FAH gene

    (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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