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Also known as: EL2; HPP; HS3; SPH3; SPTA
This gene encodes a member of a family of molecular scaffolding proteins that connect the plasma membrane to the actin cytoskeleton and plays a role in determining cell shape, alignment of transmembrane proteins, and organization of organelles. The encoded protein mainly consists of 22 spectrin repeats and participates in dimer formation. It is a component of the red blood cell membrane. Mutations in this gene can cause several inherited red blood cell disorders, including ellipsoidosis type 2, pyrocytosis, and spherocytosis type 3.