Official Full Name

spectrin, alpha, non-erythrocytic 1

Background

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.

Synonyms

SPTAN1; spectrin, alpha, non-erythrocytic 1 (alpha-fodrin); spectrin alpha chain, brain; alpha-II spectrin; fodrin alpha chain; spectrin, non-erythroid alpha chain; NEAS; EIEE5; SPTA2; FLJ17738; FLJ44613; spectrin, alpha, non-erythrocytic 1; SPECA; spectrin alpha chain, non-erythrocytic 1; alpha-spectrin; nonerythroid alpha-spectrin; spectrin, a