Fumarase
Type of enzyme / From Wikipedia, the free encyclopedia
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Fumarase (or fumarate hydratase) is an enzyme (EC 4.2.1.2) that catalyzes the reversible hydration/dehydration of fumarate to malate. Fumarase comes in two forms: mitochondrial and cytosolic. The mitochondrial isoenzyme is involved in the Krebs cycle and the cytosolic isoenzyme is involved in the metabolism of amino acids and fumarate. Subcellular localization is established by the presence of a signal sequence on the amino terminus in the mitochondrial form, while subcellular localization in the cytosolic form is established by the absence of the signal sequence found in the mitochondrial variety.[5]
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Aliases | FH, fumarate hydratase, HLRCC, LRCC, MCL, MCUL1, FMRD, Fumarate hydratase, HsFH | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 136850 MGI: 95530 HomoloGene: 115 GeneCards: FH | ||||||||||||||||||||||||||||||||||||||||||||||||||
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This enzyme participates in 2 metabolic pathways: citric acid cycle and reductive citric acid cycle (CO2 fixation), and is also important in renal cell carcinoma. Mutations in this gene have been associated with the development of leiomyomas in the skin and uterus in combination with renal cell carcinoma (HLRCC syndrome).