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 gene localized to chromosomal region 11q24.1-11q24.2. The 10-kb PBGD gene comprises 15 exons and two distinct promoters...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Chromosome Mapping
• Share to DNA, Complementary
• Share to Heterozygote