Uroporphyrinogen Decarboxylase Structural Mutant (Gly281 --> Glu) in a Case of Porphyria
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.
- Publication:
-
Science
- Pub Date:
- November 1986
- DOI:
- 10.1126/science.3775362
- Bibcode:
- 1986Sci...234..732D