| FH |
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| Identifiers |
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| Aliases | FH, fumarate hydratase, HLRCC, LRCC, MCL, MCUL1, FMRD, Fumarate hydratase, HsFH |
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| External IDs | OMIM: 136850; MGI: 95530; HomoloGene: 115; GeneCards: FH; OMA:FH - orthologs |
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| Gene location (Mouse) |
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| | Chr. | Chromosome 1 (mouse) |
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| | Band | 1|1 H3 | Start | 175,427,940 bp |
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| End | 175,453,201 bp |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - right ventricle
- body of tongue
- left ventricle
- apex of heart
- right auricle of heart
- Skeletal muscle tissue of rectus abdominis
- gastrocnemius muscle
- right lobe of liver
- muscle of thigh
- myocardium of left ventricle
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| | Top expressed in | - atrioventricular valve
- myocardium of ventricle
- digastric muscle
- sternocleidomastoid muscle
- endocardial cushion
- brown adipose tissue
- right ventricle
- temporal muscle
- soleus muscle
- vastus lateralis muscle
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| | More reference expression data |
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| BioGPS | |
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| Wikidata |
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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.
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).
