Spectrin (EP251)

Spectrin is a cytoskeletal protein which is found in muscles, red blood cells and red cell precursors. Spectrin is an actin-crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in the gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. Anti-spectrin is useful in the identification of erythrocytes and erythroid disorders.1-4