Aliases for SPTB Gene
External Ids for SPTB Gene
Previous GeneCards Identifiers for SPTB Gene
This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
GeneCards Summary for SPTB Gene
SPTB (Spectrin Beta, Erythrocytic) is a Protein Coding gene. Diseases associated with SPTB include Spherocytosis, Type 2 and Elliptocytosis 3. Among its related pathways are RET signaling and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include protein heterodimerization activity and actin filament binding. An important paralog of this gene is SPTBN1.
UniProtKB/Swiss-Prot for SPTB 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.