Fumarate hydratase

Fumarate Hydratase (also known as Fumarase) is an enzyme that catalyzes the reversible hydration/dehydration of fumarate to malate. Fumarate hydratase participates in the Citric Acid Cycle, also known as the Krebs cycle or the tricarboxylic acid cycle. The enzyme is found in both the mitochondria and the cytosol.

Function

Fumarate hydratase is a key component of the Citric Acid Cycle, where it catalyzes the conversion of fumarate to malate. This reaction is a step in the process of extracting energy from food molecules.

Genetics

The gene that encodes the fumarate hydratase enzyme is located on the long (q) arm of chromosome 1 at position 42.1. Mutations in this gene can lead to the development of certain medical conditions, such as Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) and Multiple Cutaneous and Uterine Leiomyomatosis (MCUL).

Medical Significance

Mutations in the fumarate hydratase gene can lead to the development of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) and Multiple Cutaneous and Uterine Leiomyomatosis (MCUL). These conditions are characterized by the growth of benign tumors in the skin and uterus, and in some cases, an increased risk of kidney cancer.

See Also

• Citric Acid Cycle
• Hereditary Leiomyomatosis and Renal Cell Cancer
• Multiple Cutaneous and Uterine Leiomyomatosis

References

Fumarate hydratase Resources
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