The gene FH (fumarate hydratase) is mapped to human chromosome 1q42.3-q43. The encoded protein is responsible for the conversion of fumarate to malate in the TCA (tricarboxylic acid) cycle. Fumarate is an oncometabolite and mutation in the FH gene causes accumulation of fumarate. Mutations in this gene are associated with HLRCC (hereditary leiomyomatosis and renal cell cancer) syndrome. Some mutations also cause fumarase deficiency resulting in neurological impairment.
Synonyms: Anti-fumarase; Anti-fumarate hydratase
Storage: -20C
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