Aliases for SPTAN1 Gene
External Ids for SPTAN1 Gene
Previous GeneCards Identifiers for SPTAN1 Gene
Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
GeneCards Summary for SPTAN1 Gene
SPTAN1 (Spectrin Alpha, Non-Erythrocytic 1) is a Protein Coding gene. Diseases associated with SPTAN1 include Epileptic Encephalopathy, Early Infantile, 5 and Focal Epilepsy. Among its related pathways are Metabolism of proteins and RET signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and actin binding. An important paralog of this gene is SPTA1.
UniProtKB/Swiss-Prot Summary for SPTAN1 Gene
Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.