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Literature summary for 4.2.1.2 extracted from

  • Lehtonen, H.J.; Blanco, I.; Piulats, J.M.; Herva, R.; Launonen, V.; Aaltonen, L.A.
    Conventional renal cancer in a patient with fumarate hydratase mutation (2007), Hum. Pathol., 38, 793-796.
    View publication on PubMed

Application

Application Comment Organism
medicine fumarate immunohistochemistry may serve as a useful low-cost screening method to identify hereditary leiomyomatosis and renal cancer Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information hereditary leiomyomatosis and renal cell cancer is a hereditary cancer syndrome predisposing individuals to the development of aggressive kidney cancer. These individuals harbour a germline mutation of fumarate hydratase Homo sapiens
N330S missense mutation detected in a patient with a bilateral renal cell cancer Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens hereditary leiomyomatosis and renal cell cancer is a hereditary cancer syndrome predisposing individuals to the development of aggressive kidney cancer. These individuals harbour a germline mutation of fumarate hydratase ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information hereditary leiomyomatosis and renal cell cancer is a hereditary cancer syndrome predisposing individuals to the development of aggressive kidney cancer. These individuals harbour a germline mutation of fumarate hydratase Homo sapiens ?
-
?