DISEASES

Disease-gene associations mined from literature

Literature associating FH and leiomyosarcoma

FH [ENSP00000355518]

Fumarate hydratase, mitochondrial; Catalyzes the reversible stereospecific interconversion of fumarate to L-malate . Experiments in other species have demonstrated that specific isoforms of this protein act in defined pathways and favor one direction over the other (Probable). [Isoform Cytoplasmic]: Catalyzes the dehydration of L-malate to fumarate (By similarity). Fumarate metabolism in the cytosol plays a role during urea cycle and arginine metabolism; fumarate being a by- product of the urea cycle and amino-acid catabolism (By similarity). Also plays a role in DNA repair by promoting non-homologous end-joining (NHEJ) . In response to DNA damage and phosphorylation by PRKDC, translocates to the nucleus and accumulates at DNA double-strand breaks (DSBs): acts by catalyzing formation of fumarate, an inhibitor of KDM2B histone demethylase activity, resulting in enhanced dimethylation of histone H3 'Lys-36' (H3K36me2) ; Belongs to the class-II fumarase/aspartase family. Fumarase subfamily.

Synonyms:  FH,  A0A0S2Z4C3,  P07954,  P07954p,  hP07954 ...

Linkouts:  STRING  Pharos  UniProt  OMIM