Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria.
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de Verneuil H, Grandchamp B, Beaumont C, Picat C, Nordmann Y
Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria.
Science. 1986 Nov 7;234(4777):732-4.
- PubMed ID
- 3775362 [ View in PubMed]
- Abstract
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.