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.
D000595:Amino Acid Sequence; D002262:Carboxy-Lyases / Q000235:genetics*; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D006801:Humans; D008107:Liver Diseases / Q000235:genetics; D009154:Mutation; D011164:Porphyrias / Q000235:genetics*; D012871:Skin Diseases / Q000235:genetics; D013329:Structure-Activity Relationship; D014575:Uroporphyrinogen Decarboxylase / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism
D004247:DNA; D002262:Carboxy-Lyases; D014575:Uroporphyrinogen Decarboxylase