Aliases for SPTA1 Gene
External Ids for SPTA1 Gene
Previous GeneCards Identifiers for SPTA1 Gene
This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]
GeneCards Summary for SPTA1 Gene
SPTA1 (Spectrin Alpha, Erythrocytic 1) is a Protein Coding gene. Diseases associated with SPTA1 include Elliptocytosis 2 and Pyropoikilocytosis, Hereditary. Among its related pathways are RET signaling and Apoptosis Modulation and Signaling. Gene Ontology (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 Summary 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.