FH
136850 1q42.1
Fumarate hydratase
Fumarate hydratase or fumarase is an enzymatic component of the tricarboxylic acid cycle or Krebs cycle. It catalyzes the conversion of fumarate to malate.
germline mutations in fumarate deficiency
germline mutations in cutaneous and uterine leiomyomatosis(MIM.150800) (#15761418#)
germline mutations in hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) (MIM.605839)
References
Kiuru M, Launonen V. Hereditary leiomyomatosis and renal cell cancer (HLRCC). Curr Mol Med. 2004 Dec;4(8):869-75. PMID: #15579034#
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