Article
The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria.
Protein science : a publication of the Protein Society - 1 Oct 1994
Brownlie P D, Lambert R, Louie G V, Jordan P M, Blundell T L, Warren M J, Cooper J B, Wood S P
Abstract excerpt
Mutations in the human gene for the enzyme porphobilinogen deaminase give rise to an inherited disease of heme biosynthesis, acute intermittent porphyria. Knowledge of the 3-dimensional structure of human porphobilinogen deaminase, based on the structure of the bacterial enzyme, allows correlatio...
Topics
- Amino Acid Sequence
- Humans
- Hydroxymethylbilane Synthase
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Porphyria, Acute Intermittent
- Protein Structure, Secondary