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FH Gene

protein-coding   GIFtS: 63

GC01M241660
fumarate hydratase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for FH gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases & Descriptions
fumarate hydratase1 2     MCUL12
fumarase1 2     LRCC2
fumarate hydratase, mitochondrial2     Fumarase3
MCL2     EC 4.2.1.23
HLRCC2     

External Ids:    HGNC: 37001   Entrez Gene: 22712   Ensembl: ENSG000000914837   UniProtKB: P079543   

Search outside databases for aliases for FH gene

Previous GC identifers: GC01M239746 GC01M237114 GC01M237957 GC01M238702 GC01M237986

Summaries
for FH gene

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

  User Feedback		 Entrez Gene summary for FH:
The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and
catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form,
differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion,
where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable
class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to
progressive encephalopathy. (provided by RefSeq)

UniProtKB/Swiss-Prot: FUMH_HUMAN, P07954
Function: Also acts as a tumor suppressor

Genomic Views
for FH gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
About This Section

  User Feedback		 Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the FH gene upstream (promoter) region "":
FOXO4   FOXO1a   p300   p53   FOXJ2 (long isoform)   IRF-1   NRSF form 2   NRSF form 1   Nkx3-1   Nkx3-1 v4   

Epigenetics:
"" SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for FH:  ""
MePH02537-1A   

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

Entrez Gene cytogenetic band: 1q42.1   Ensembl cytogenetic band:  1q43   HGNC cytogenetic band: 1q42.1

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

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M241660:  view genomic region     (about GC identifiers)

Start:
 241,660,903 bp from pter
End:
 241,683,061 bp from pter
Size:
 22,159 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000001.10  NT_167186.1  

Proteins
for FH gene

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
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  User Feedback		 UniProtKB/Swiss-Prot: FUMH_HUMAN, P07954 (See protein sequence)
Recommended Name: Fumarate hydratase, mitochondrial precursor  
Size: 510 amino acids; 54637 Da
Subunit: Homotetramer
Subcellular location: Isoform Mitochondrial: Mitochondrion
Subcellular location: Isoform Cytoplasmic: Cytoplasm
Miscellaneous: There are 2 substrate binding sites: the catalytic A site, and the non-catalytic B site that may play a
role in the transfer of substrate or product between the active site and the solvent. Alternatively, the B site may
bind allosteric effectors (By similarity)
PDB structures from "" and Proteopedia "" :
3E04 (3D) ""    
Alternative initiation: 2 isoforms:  P07954-1   P07954-2   

Post-translational modifications:

  • Isoform Cytoplasmic is acetylated at position 2 (By similarity)1
  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins: NP_000134.2  

    ENSEMBL proteins: 
    ENSP00000355518 


    Human Recombinant Proteins 
    ""Browse Purified and Recombinant Proteins at Millipore
    ""Browse Human Recombinant Proteins at Sigma-Aldrich
    "" Browse R&D Systems for human recombinant proteins
    ""Browse recombinant and purified proteins available from Enzo Life Sciences
    ""HuPro® and/or Recombinant Proteins from Abnova for FH ""
    "" Origene Purified Recombinant Human Protein: FH
    ""Novus Biologicals Proteins for FH  ""
    Novus Biologicals Lysate for FH
    ""Browse Sino Biological Recombinant Proteins  ""

    4 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IEA--
    GO:0005739 mitochondrion IEA--
    GO:0005759 mitochondrial matrix EXP8200987
    GO:0045239 tricarboxylic acid cycle enzyme complex IEA--
    About this table

    "" FH for ontologies           About GeneDecksing



    Antibodies for FH: 
    ""Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    ""Sigma-Aldrich Antibodies for FH
    "" Browse R&D Systems for Antibodies
    ""Monoclonal and Polyclonal Antibodies from Abnova (FH)
    "" Origene Antibodies: FH ""
    ""Novus Biologicals Antibodies for FH
    ""Browse antibodies at Epitomics

    Assays for FH: 
    ""Browse Kits and Assays available from Millipore
    ""Browse ELISAs at Sigma-Aldrich
    "" Browse R&D Systems for biochemical assays
    ""Browse Enzo Life Sciences for kits & assays

    Protein Domains/
    Families
    for FH gene

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

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    "" FH for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR020557 Fumarate_lyase_CS
     IPR008948 L-Aspartase-like
     IPR000362 Fumarate_lyase
     IPR005677 Fum_hydII
     IPR018951 Fumarase_C_C

    Graphical View of Domain Structure for InterPro Entry P07954

    ProtoNet protein and cluster: P07954

    2 Blocks protein families:
    IPB000362 Fumarate lyase
    IPB003031 Delta crystallin signature


    UniProtKB/Swiss-Prot: FUMH_HUMAN, P07954
    Similarity: Belongs to the class-II fumarase/aspartase family. Fumarase subfamily

    Gene Function
    for FH gene

    (According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (FH)
    "" Origene 29mer shRNA kits in GFP-retroviral vector: FH
    Origene shRNA RFP: FH
    Origene basic RS shRNA: FH

    ""Applied Biosystems Silencer® siRNAs for FH
    ""Sigma-Aldrich siRNA Panels and siRNA for FH
    Sigma-Aldrich shRNA for FH
    Explore Sigma-Aldrich super-pooled esiRNAs
    Clones:""Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    ""Browse iPSC Reprogramming Factors at Sigma-Aldrich
    "" Origene GFP tagged cDNA clones in CMV expression vector: FH
    Origene Myc/DDK tagged cDNA clones in CMV expression vector: FH
    Origene untagged cDNA clones in CMV expression vector: FH
    ""Browse Sino Biological Human cDNA Clones  ""

    UniProtKB/Swiss-Prot: FUMH_HUMAN, P07954
    Function: Also acts as a tumor suppressor
    Catalytic activity: (S)-malate = fumarate + H(2)O
    Enzyme Number (IUBMB): EC 4.2.1.2 

    Genatlas biochemistry entry for FH:
    fumarate hydratase,mitochondrial,catalyzing the seventh step of citric acid cycle

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824 catalytic activity ----
    GO:0004333 fumarate hydratase activity EXP8200987
    GO:0016829 lyase activity IEA--
    About this table

    "" FH for ontologies           About GeneDecksing

    Animal Models: 3 MGI mutant phenotypes (inferred from 4 alleles"") (MGI details for Fh1):

    homeostasis/metabolismlethality-prenatal/perinatalrenal/urinary system

    "" FH for phenotypes           About GeneDecksing

    Pathways & Interactions
    for FH gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
    About This Section

      User Feedback
    "" FH for pathways           About GeneDecksing

    2 "" Sigma-Aldrich "Your Favorite Gene" Pathways for  FH  (Your Favorite Gene powered by Ingenuity)
      ""  Renal Cell Carcinoma Signaling
    Citrate Cycle

    4 "" Kegg Pathways  (Kegg details for FH):
      ""  hsa00020 Citrate cycle (TCA cycle)
    hsa01100 Metabolic pathways
    hsa05200 Pathways in cancer
    hsa05211 Renal cell carcinoma

    UniProtKB/Swiss-Prot: FUMH_HUMAN, P07954
    Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; (S)-malate from fumarate: step 1/1

    "" SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FH

    5/10 Interacting proteins for FH (ENSP000003555183) via UniProtKB, MINT, and/or STRING (see all 10 ) ""

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MDH1ENSP000002331143STRING: ENSP00000233114
    SDHBENSP000003646493STRING: ENSP00000364649
    SDHCENSP000003569533STRING: ENSP00000356953
    SDHDENSP000003646993STRING: ENSP00000364699
    L2HGDHENSP000002674363STRING: ENSP00000267436
    About this table

    4 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006099 tricarboxylic acid cycle IEA--
    GO:0006106 fumarate metabolic process IEA--
    GO:0006108 malate metabolic process IEA--
    GO:0048873 homeostasis of number of cells within a tissue IEA--
    About this table

    "" FH for ontologies           About GeneDecksing


    Drugs & Compounds
    for FH gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

      User Feedback
    "" FH for compounds           About GeneDecksing

    "" Browse drugs & compounds from Enzo Life Sciences
    ""Browse Small Molecules at Sigma-Aldrich

    "" Browse Tocris compounds for FH
    10/200 ""Novoseek chemical compound relationships for FH gene (see all 200 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    succinate 100.00 97 16892081 (4), 4633350 (3), 19778456 (3), 6426768 (2) (see all 85)
    malate 100.00 198 7285903 (4), 4633350 (3), 9922130 (2), 9315875 (2) (see all 100)
    fumarate 100.00 373 12177782 (6), 17383644 (5), 16892081 (4), 8938419 (3) (see all 100)
    isocitrate 97.84 57 7397239 (2), 4999414 (2), 14168 (2), 9496429 (1) (see all 54)
    citrate 70.03 71 7397239 (2), 7285903 (2), 6588129 (2), 6409145 (2) (see all 63)
    pyruvate 40.45 53 8010090 (2), 6426768 (2), 3759306 (2), 19276158 (2) (see all 48)
    alpha-ketoglutarate 28.23 25 5660627 (2), 9390175 (1), 8338207 (1), 7954112 (1) (see all 24)
    oxaloacetate 27.64 19 9148774 (1), 8422384 (1), 7511585 (1), 7093213 (1) (see all 19)
    phosphoenolpyruvate 21.93 21 9148774 (2), 8010090 (2), 9298188 (1), 7216425 (1) (see all 19)
    aspartate 14.90 27 3091019 (3), 7285903 (2), 6108988 (2), 9172863 (1) (see all 23)
    About this table


    Transcripts
    for FH gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
    Expression Assays from Applied Biosystems)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (FH)
    ""Applied Biosystems Silencer® siRNAs:  NM_000143  
    "" Origene 29mer shRNA kits in GFP-retroviral vector: FH
    Origene shRNA RFP: FH
    Origene basic RS shRNA: FH

    ""Sigma-Aldrich siRNA Panels and siRNA for FH
    Sigma-Aldrich shRNA for FH
    Explore Sigma-Aldrich super-pooled esiRNAs

    microRNA:""Search SABiosciences for microRNAs that regulate FH: ""
    Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
    NM_000143  


    Clones:"" Origene GFP tagged cDNA clones in CMV expression vector: FH
    Origene Myc/DDK tagged cDNA clones in CMV expression vector: FH
    Origene untagged cDNA clones in CMV expression vector: FH
    Primers:"" Origene genome-wide validated SYBR primer pairs: FH
    ""SABiosciences RT2 qPCR Primer Assay for FH: PPH18967A ""

    REFSEQ mRNAs for FH gene: 

    NM_000143.2  

    Additional cDNA sequence: 

    AK312415.1 BC003108.1 BC017444.1 BT009839.1 CR590170.1 CR594789.1 CR615302.1 M15502.1 
    U48857.1 U59309.1 

    10 DOTS entries:

    DT.455566  DT.100663120  DT.100663118  DT.95257355  DT.455565  DT.121381685  DT.100663122  DT.100044892 
    DT.121381680  DT.40289270 

    24/419 AceView cDNA sequences (see all 419 ):

    BU625528 BU932098 BQ723472 BQ642546 BU623117 BM798725 AA633146 BE255302 
    BM916378 CR615302 BE293788 BU162957 BE275682 BQ957235 BQ051487 BQ064455 
    CD365425 BQ644750 BM424265 BU168824 BQ878570 CD236780 BF591353 CB218338 

    "" highest scoring ESTs for FH:

    U59309 AA081188 AA232177 AA321634 AA355828 AA633146 AI040350 AI041675 AI140963 AI363836 

    Unigene Cluster for FH:

    Fumarate hydratase
    Hs.592490  [show with all ESTs]
    Unigene Representative Sequence: U59309


    GeneLoc Exon Structure

    3 Ensembl transcripts including schematic representations:
    ENST00000366560  ENST00000497042  ENST00000493477  

    Expression
    for FH gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
    About This Section

      User Feedback

    FH expression in normal and diseased human tissues

    "" Applied Biosystems TaqMan ® Gene Expression Assays for FH

    1""  / 2""  / 3""

    7 probe-sets matching FH gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    32546_at2, 3 U95-A 2 1.00 0.94 1.00 1.00 U59309 1.00 1.00 1.00 1
    203032_s_at2, 3 U133-A 1 1.00 1.00 -- -- AI363836 0.80 1.00 0.91 1
    214170_x_at2, 3 U133-A 2 0.91 0.95 -- -- AA669797 0.40 1.00 0.76 1
    203033_x_at2, 3 U133-A 2 0.91 0.90 -- -- NM_000143 0.60 1.00 0.82 1
    203032_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    214170_x_at2 U133Plus2 2 0.91 0.95 -- -- -- -- -- -- --
    203033_x_at2 U133Plus2 2 0.91 0.90 -- -- -- -- -- -- --
    About this table

    "" FH for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TATAAAATTT

    SOURCE GeneReport for Unigene cluster: Hs.592490

    Expression variation in blood from EXPOLDB for FH

    Primers:"" Origene genome-wide validated SYBR primer pairs: FH ""
    ""SABiosciences RT2 qPCR Primer Assay for FH: PPH18967A ""

    Orthologs
    for FH gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

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    Orthologs for FH gene from 5/27 species (see all 27 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 FH1   -- fumarate hydratase 91.6(n)
    95.67(a)    		 480092  XM_537215.2  XP_537215.1 
    chimpanzee
    (Pan troglodytes)    		 FH1   -- fumarate hydratase 99.35(n)
    99.41(a)    		 457851  XM_001159979.1  XP_001159979.1 
    cow
    (Bos taurus)    		 FH1   -- fumarate hydratase 91.18(n)
    94.71(a)    		 520260  NM_001075803.1  NP_001069271.1 
    rat
    (Rattus norvegicus)    		 Fh11   -- fumarate hydratase 1 85.67(n)
    93.1(a)    		 24368  NM_017005.1  NP_058701.1 
    mouse
    (Mus musculus)    		 Fh11, 5 15
    		 fumarate hydratase 11, 5 87.57(n)1
    93.49(a)1    		 141941  NM_010209.11  NP_034339.11 
     AK0023795  AK1470005  (see all 12)
    About this table        Species with no ortholog for FH

    ENSEMBL Gene Tree for FH

    Paralogs
    for FH gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

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    Genomic Variants
    for FH gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
    About This Section

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    10/30 NCBI SNPs in FH are shown (see all 30 )
    (Click "" for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 51)
    ABGenomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 1 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    ""
    rs75302701,2
    		C,F,A,H212142642(+) AAATTC/ATTTAA 1 -- ng51""21Minor allele frequency- A:0.32NS EA NA MN WA 2150""
    --
    rs66791861,2
    		C,F,A212143236(+) GAAATA/GTTAAC 1 -- ng51 tfbs3""2Minor allele frequency- G:0.09EA WA 138""
    ""
    rs66789861,2
    		C,F,A212143080(+) TCCACA/GTATTT 1 -- ng51""6Minor allele frequency- G:0.07NS EA WA 556""
    --
    rs66816491,2
    		C,F,A212143137(+) TGCAGT/CAGTAA 1 -- ng51""2Minor allele frequency- C:0.15EA WA 138""
    --
    rs74147941,2
    		C212142785(+) TATTAC/TTTGCC 1 -- ng51""0--------
    --
    rs20700801,2
    		C,F241663825(-) AACTGC/TGTGGT 2 C ref1 syn1""1Minor allele frequency- T:0.07MN 62""
    ""
    rs13358981,2
    		C,F,O,A,H212137559(+) TAAGAC/GTAATA 1 -- int1""39Minor allele frequency- G:0.45EA NA NS MN WA 3486""
    ""
    rs46596071,2
    		C,F,A,H212125502(+) CAGCTT/GCGGGA 1 -- int1""14Minor allele frequency- G:0.25NS EA NA WA 776""
    ""
    rs46596081,2
    		C,F,A,H212139683(+) GGCATC/GAAGGG 1 -- int1""6Minor allele frequency- G:0.31NA EA 170""
    ""
    rs21856261,2
    		C,F,A,H212123768(-) TAAAAT/CGCCTC 1 -- int1""17Minor allele frequency- C:0.31NA MN EA WA 1708""
    About this table

    HapMap Linkage Disequilibrium images for FH (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)  ""
          Database of Genomic Variants (DGV) variations for FH: --

    Disorders & Mutations
    for FH gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

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    "" FH for disorders           About GeneDecksing

    OMIM: 136850   disorders: 606812  150800  605839  

    UniProtKB/Swiss-Prot: FUMH_HUMAN, P07954

  • Defects in FH are the cause of fumarase deficiency (FD) [MIM:606812]; also known as fumaricaciduria. FD is
    • characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic
    acidemia
  • Defects in FH are the cause of multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]. MCUL1 is an
    • autosomal dominant condition in which affected individuals develop benign smooth muscle tumors (leiomyomata) of the
    skin. Affected females also usually develop leiomyomata of the uterus (fibroids)
  • Defects in FH are the cause of hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:605839]

    • 10/103 ""Novoseek disease relationships for FH gene (see all 103 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    fumarase deficiency 100.00 35 9635293 (3), 8200987 (3), 3736629 (3), 1557269 (3) (see all 25)
    hlrcc 100.00 75 17383644 (6), 18503824 (5), 20056206 (4), 19075141 (4) (see all 42)
    germline mutation 81.62 51 19075141 (6), 16155190 (4), 16639410 (3), 16477632 (2) (see all 37)
    leiomyoma 72.00 61 19151755 (6), 19075141 (6), 14695314 (5), 15949892 (4) (see all 31)
    leiomyomatosis 70.00 30 16237213 (3), 19276158 (2), 16881969 (2), 12761039 (2) (see all 24)
    carcinoma; renal cell 38.27 55 16237213 (4), 17270241 (3), 16029320 (3), 12183404 (3) (see all 36)
    cutaneous leiomyoma 34.91 13 16029320 (4), 12183404 (3), 15724016 (2), 18503824 (1) (see all 7)
    mcul1 24.79 8 11283798 (4), 15949892 (2), 18514489 (1), 17908262 (1)
    fumarate hydratase gene mutation 14.15 4 17034471 (2), 17908262 (1), 16972175 (1)
    uterine leiomyosarcoma 13.46 8 16477632 (2), 16155190 (2), 14695314 (2), 18503824 (1) (see all 5)
    About this table

    Genatlas disease: FH
    fumaricaciduria,mitochondrial encephalomyopathy

    GeneTests: FH
    Hereditary Leiomyomatosis and Renal Cell Cancer

    Locus Specific Mutation Databases: FH
    Human Gene Mutation Database: FH
    Genetic Association Database: FH
    Human Genome Epidemiology Navigator: FH (522 documents)

    Medical News
    for FH gene

    (Possibly Related Articles in Doctor's Guide)
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    Publications
    for FH gene

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
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      User Feedback    		10/230 PubMed articles for FH gene (see all 230 ):

    Search for FH gene

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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      User Feedback
    Entrez Gene: 2271 HGNC: 3700 AceView: FH Ensembl:ENSG00000091483 euGenes: HUgn2271
    ECgene: FH Kegg: 2271 H-InvDB: FH

    Other Databases showing FH gene

    (According to HUGE)
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    Specialized Databases showing FH gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    ATLAS Chromosomes in Cancer entry for FH Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FH

    Intellectual Property
    for FH gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
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      User Feedback    		Patent Information for FH gene: ""
    Search GeneIP for patents involving FH

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


    Services
    for FH gene

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Novus Biologicals,
    Epitomics, Sigma-Aldrich, R&D Systems, SABiosciences, Millipore, Abnova,
    Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience)
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    ""
    Products for FH:
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    "" Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
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