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Literature summary for 4.2.1.2 extracted from

  • Ylisaukko-oja, S.K.; Kiuru, M.; Lehtonen, H.J.; Lehtonen, R.; Pukkala, E.; Arola, J.; Launonen, V.; Aaltonen, L.A.
    Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients (2006), Int. J. Cancer, 119, 283-287.
    View publication on PubMed
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Protein Variants

Protein Variants Comment Organism
K424R the activity of the mutated protein is significantly reduced as compared to wild type Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens germline mutations in fumarate hydratase gene at 1q43 predispose to hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. In HLRCC, the most common clinical features are leiomyomas of the skin and uterus, and in a subset of the families, renal cell cancer (RCC) and uterine leiomyosarcoma (ULMS) occur frequently at young age. On the population level hereditary FH defects do play a role in pathogenesis of sporadic early onset ULMSs, albeit rarely ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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Source Tissue

Source Tissue Comment Organism Textmining

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information germline mutations in fumarate hydratase gene at 1q43 predispose to hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. In HLRCC, the most common clinical features are leiomyomas of the skin and uterus, and in a subset of the families, renal cell cancer (RCC) and uterine leiomyosarcoma (ULMS) occur frequently at young age. On the population level hereditary FH defects do play a role in pathogenesis of sporadic early onset ULMSs, albeit rarely Homo sapiens ?
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