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Human Fumarate Hydratase  Protein

All Fumarate Hydratase Reagents

Fumarate Hydratase
Expression host: E. coli  
12115-H08E-50
12115-H08E-100
50 µg 
100 µg 
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    Fumarate Hydratase Summary & Protein Information

    Fumarate Hydratase Background

    Gene Summary: The protein encoded by FH 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 FH gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008]
    General information above from NCBI
    Catalytic activity: (S)-malate = fumarate + H(2)O.
    Subunit structure: Homotetramer. {ECO:0000269|Ref.14}.
    Subcellular location: Isoform Mitochondrial: Mitochondrion.; Isoform Cytoplasmic: Cytoplasm.
    Tissue specificity: Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology. {ECO:0000269|PubMed:22509282}.
    Involvement in disease: DISEASE: Fumarase deficiency (FHD) [MIM:606812]: Characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia. {ECO:0000269|PubMed:9635293, ECO:0000269|Ref.15}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]: A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients. {ECO:0000269|PubMed:11865300}. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Sequence similarity: Belongs to the class-II fumarase/aspartase family. Fumarase subfamily. {ECO:0000305}.
    General information above from UniProt

    Fumarate Hydratase (FH) 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. Fumarate Hydratase 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. Individuals with hemizygous germline fumarate hydratase (FH) mutations are predisposed to renal cancer. These tumors predominantly exhibit functional inactivation of the remaining wild-type allele, implicating FH inactivation as a tumor-promoting event.

    Fumarate Hydratase Alternative Name

    FMRD,LRCC,HLRCC,MCUL1,MCL, [homo-sapiens]
    Fumarate Hydratase,HLRCC,LRCC,MCUL1,MCL,FH, [human]
    Fumarate Hydratase,Fh,Fh1,Fh-1, [mouse]

    Fumarate Hydratase Related Studies

  • King A, et al. (2005) Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer. Oncogene. 25(34): 4675-82.
  • Alam NA, et al. (2003) Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet.12(11): 1241-52.
  • Pollard PJ, et al. (2003) The TCA cycle and tumorigenesis: the examples of fumarate hydratase and succinate dehydrogenase. Ann Med. 35(8): 632-9.
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