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Literature summary for 1.3.5.1 extracted from

  • Papaspyrou, K.; Rossmann, H.; Fottner, C.; Weber, M.M.; Mann, W.; Lackner, K.J.; Helling, K.
    Malignant paraganglioma caused by a novel germline mutation of the succinate dehydrogenase D-gene - a case report (2008), Head Neck, 30, 964-969.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
genes SDHB, SDHC, and SDHD, DNA and amino acid sequence determination and analysis, genotyping Homo sapiens

Protein Variants

Protein Variants Comment Organism
R17X naturally occuring mutation in the SDHD gene of a 29-year-old man showing metastases in both lungs and the liver, but no increased hormone production by the tumor, phenotype, overview Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens approximately 10% to 15% of paragangliomas are caused by mutations in the succinate dehydrogenase genes SDHB, SDHC, or SDHD ?
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?

Organism

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

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information approximately 10% to 15% of paragangliomas are caused by mutations in the succinate dehydrogenase genes SDHB, SDHC, or SDHD Homo sapiens ?
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?

Synonyms

Synonyms Comment Organism
SDH
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Homo sapiens
succinate dehydrogenase
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Homo sapiens