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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria.

Uroporphyrinogen decarboxylase deficiency in man is responsible for familial porphyria cutanea tarda and hepatoerythropoietic porphyria. A recent study of a family with hepatoerythropoietic porphyria showed that the enzyme defect resulted from rapid degradation of the protein in vivo. Cloning and sequencing of a complementary DNA for the mutated gene revealed that the mutation was due to the replacement of a glycine residue by a glutamic acid residue at position 281. This base change leads to a protein that is very rapidly degraded in the presence of cell lysate. Characterization of the mutation will allow comparison of this defect in a homozygous patient with defects in other patients with familial porphyria cutanea tarda.[1]

References

  1. Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria. de Verneuil, H., Grandchamp, B., Beaumont, C., Picat, C., Nordmann, Y. Science (1986) [Pubmed]
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