SPTAN1 (spectrin alpha chain, non-erythrocytic 1) is a part of the spectrin family of filamentous cytoskeletal proteins. They 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. SPTAN1 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.
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Protein Aliases: (ALPHA)II-SPECTRIN; alpha-fodrin; Alpha-II spectrin; FLJ44613; Fodrin alpha chain; Spectrin alpha; Spectrin alpha chain, non-erythrocytic 1; spectrin, non-erythroid alpha chain; Spectrin, non-erythroid alpha subunit
Gene Aliases: EIEE5; NEAS; SPTA2; SPTAN1
UniProt ID: (Human) Q13813
Entrez Gene ID: (Human) 6709