Fumarase

Fumarase (or fumarate hydratase) is an enzyme 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 (also known as the citric acid cycle or the tricarboxylic acid cycle), which is central to cellular respiration. The cytosolic isoenzyme is involved in the metabolism of amino acids and fumarate.

Function

Fumarase catalyzes the chemical reaction that transforms fumarate into malate. The reaction is as follows:

fumarate + H2O <=> malate

This reaction is a key step in the Krebs cycle, a series of chemical reactions used by all aerobic organisms to generate energy.

Clinical significance

Mutations in the fumarase gene are associated with fumarase deficiency, a rare autosomal recessive disorder characterized by severe neurological impairment. Symptoms of fumarase deficiency may include developmental delay, severe mental retardation, and dysmorphic facial features.

In addition, mutations in the fumarase gene have been associated with hereditary leiomyomatosis and renal cell cancer (HLRCC), a disorder that increases the risk of developing benign tumors in the skin and uterus (leiomyomas) and a type of kidney cancer called renal cell carcinoma.

See also

• Krebs cycle
• Fumarate
• Malate
• Fumarase deficiency
• Hereditary leiomyomatosis and renal cell cancer

References

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