Gene Detail
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| Gene Symbol | FH | ||||||||||
| 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). | ||||||||||
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