FH : fumarate hydratase
Description
The FH (fumarate hydratase) is a protein-coding gene located on chromosome 1.
The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). Fumarase participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use oxygen and generate energy. Specifically, fumarase helps convert a molecule called fumarate to a molecule called malate.
The FH gene encodes fumarase, an enzyme that catalyzes the reversible interconversion of fumarate to L-malate. This process is stereospecific, meaning it occurs in a specific orientation. Studies in other organisms suggest that different versions of this enzyme may have specialized roles in particular metabolic pathways, favoring one direction of the reaction over the other.
FH is also known as FMRD, HLRCC, HsFH, LRCC, MCL, MCUL1.
Associated Diseases
- Hereditary leiomyomatosis and renal cell cancer
- Fumarase deficiency
- Hereditary pheochromocytoma-paraganglioma
- Primary macronodular adrenal hyperplasia
