Aliases for SPTA1 Gene
External Ids for SPTA1 Gene
Previous GeneCards Identifiers for SPTA1 Gene
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. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This 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 this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. [provided by RefSeq, Jul 2008]
GeneCards Summary for SPTA1 Gene
SPTA1 (Spectrin Alpha, Erythrocytic 1) is a Protein Coding gene. Diseases associated with SPTA1 include Elliptocytosis-2 and Pyropoikilocytosis. Among its related pathways are RET signaling and Innate Immune System. GO annotations related to this gene include calcium ion binding and actin filament binding. An important paralog of this gene is SPTAN1.
UniProtKB/Swiss-Prot for SPTA1 Gene
Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.