Article
Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. I. Biochemical identification of rearrangements in the spectrin/actin binding domain and functional characterizations.
The Journal of clinical investigation - 1 Aug 1990
Marchesi S L, Conboy J, Agre P, Letsinger J T, Marchesi V T, Speicher D W, Mohandas N
Abstract excerpt
Protein 4.1 (80 kD) interacts with spectrin and short actin filaments to form the erythrocyte membrane skeleton. Mutations of spectrin and protein 4.1 are associated with elliptocytosis or spherocytosis and anemia of varying severity. We analyzed two mutant protein 4.1 molecules associated with elliptocytosis: a high molecular weight 4.1 (95 kD) associated with mild elliptocytosis without anemia, and a low...
Topics
- Actins
- Amino Acid Sequence
- Binding Sites
- Cytoskeletal Proteins
- Electrophoresis, Gel, Two-Dimensional
- Elliptocytosis, Hereditary
- Erythrocyte Deformability
- Erythrocyte Membrane
- Erythrocytes