Anti-FH/Fumarase antibody [EPR11647(2)(B)] - N-terminal

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

Fumarase also known as fumarate hydratase (FH) catalyzes the reversible hydration of fumarate to malate in the citric acid cycle. This enzyme weighs approximately 49 kDa. Fumarase is predominantly expressed in the mitochondria where it performs its main function. However a cytosolic form exists that plays roles outside of the citric acid cycle especially related to DNA damage response.

Biological function summary

Fumarase converts fumarate into malate which is a critical step in cellular energy production. In the mitochondria fumarase acts as a part of the TCA cycle facilitating ATP generation. In the cytosol beyond its enzymatic activity fumarase participates in DNA repair indicating its dual functionality. This suggests that fumarase might play additional roles that are yet discovered.

Pathways

Fumarase plays essential roles in both the citric acid cycle and DNA repair pathways. In the TCA cycle fumarase along with enzymes like malate dehydrogenase maintains efficient energy conversion in mitochondria. In DNA repair fumarase likely interacts with proteins such as p53 suggesting that fumarate has signaling roles impacting cell survival and replication.

Associated diseases and disorders

Mutations in the fumarase gene associate with hereditary leiomyomatosis and renal cell cancer (HLRCC). This disorder involves impaired fumarase function leading to abnormal cellular processes and tumor development. Fumarase deficiencies also connect to neurological disorders suggesting that its dysfunction has broad effects in cellular metabolism and genome stability linking it indirectly to other proteins within the affected pathways.