Article
Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria.
Molecular medicine (Cambridge, Mass.) - 5 Mar 2013
Bishop David F, Tchaikovskii Vassili, Nazarenko Irina, Desnick Robert J
Abstract excerpt
X-linked protoporphyria (XLP) (MIM 300752) is a recently recognized erythropoietic porphyria due to gain-of-function mutations in the erythroid-specific aminolevulinate synthase gene (ALAS2). Previously, two exon 11 small deletions, c.1699_1670ΔAT (ΔAT) and c.1706_1709ΔAGTG (ΔAGTG), that prematurely truncated or elongated the ALAS2 polypeptide, were reported to increase enzymatic activity 20- to 40-fold, causing...
Topics
- 5-Aminolevulinate Synthetase
- Enzyme Stability
- Erythrocytes
- Female
- Genetic Diseases, X-Linked
- Humans
- Kinetics
- Male
- Mutation
- Protoporphyria, Erythropoietic
- Temperature