Fumarate hydratase (FH) is a key enzyme in the tricarboxylic acid (TCA) cycle, responsible for catalyzing the conversion of fumarate to malate. FH exists in two forms: mitochondrial FH participates in the metabolic processes of energy production, while cytoplasmic FH is involved in the synthesis of amino acids and nucleotides. The expression of the FH gene occurs in various tissues, but it is more abundant in tissues with high energy demands such as the heart, muscles, and brain. Mutations in the FH gene are associated with a variety of diseases, including hereditary tumor syndromes and metabolic disorders. Specifically, mutations in FH can lead to the accumulation of fumarate, thereby affecting cellular metabolism and signal transduction, and are related to diseases such as renal cell carcinoma and Leiomyomatosis and Renal Cell Cancer (HLRCC) syndrome.