Porphobilinogen deaminase gene structure and molecular defects.

Abstract excerpt

Porphobilinogen deaminase (PBGD) is the third enzyme of the heme biosynthetic pathway. The half-normal activity of human PBGD causes acute intermittent porphyria (AIP), an autosomal dominant inherited disease. Two PBGD isoforms, one ubiquitous and one erythroid specific, are encoded by a single g...

Topics

• Animals
• Chromosome Mapping
• DNA, Complementary
• Female
• Heterozygote
• Humans
• Hydroxymethylbilane Synthase
• Isoenzymes
• Male
• Molecular Biology
• Mutation
• Pedigree
• Polymorphism, Genetic
• Porphyria, Acute Intermittent