Article
Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer.
Human molecular genetics - 15 Jan 2005
Ohgari Yoshiko, Sawamoto Mari, Yamamoto Masayoshi, Kohno Hirao, Taketani Shigeru
Abstract excerpt
Erythropoietic protoporphyria (EPP) is an autosomal inherited disease of heme biosynthesis caused by a partial deficiency of the enzyme ferrochelatase. Patients with EPP show only 20-30% normal activity because of mutations in one of the alleles of the ferrochelatase gene. To clarify the molecular mechanisms of this low level of activity, we co-expressed human ferrochelatase carrying His- and HA-tags in a tandem...
Topics
- Dimerization
- Ferrochelatase
- Genetic Vectors
- Humans
- Mutation
- Plasmids
- Protoporphyria, Erythropoietic