Missing content? – Request curation!
Request curation for specific Genes, variants, or PubMed publications.
Have questions, comments or suggestions? - Let us know!
Email us at : email@example.com
|Synonyms||FMRD | HLRCC | HsFH | LRCC | MCL | MCUL1|
|Gene Description||FH, fumarate hydratase, is an citric acid cycle enzyme that catalyzes the conversion of fumarate to malate (PMID: 25864878) and plays a role in mitochondria function (PMID: 31085323). Germline mutations in FH are associated with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) (PMID: 25864878, PMID: 25105836, PMID: 32108620) and uterine leiomyomas (PMID: 31564060).|