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Literature summary for 4.2.1.2 extracted from

  • Remes, A.M.; Filppula, S.A.; Rantala, H.; Leisti, J.; Ruokonen, A.; Sharma, S.; Juffer, A.H.; Hiltunen, J.K.
    A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency (2004), J. Mol. Med., 82, 550-554.
    View publication on PubMed

Organism

Organism UniProt Comment Textmining
Homo sapiens
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homozygous carriers of the mutation Q376P suffer from severe encephalopthy and die at a young age
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