Gene: SPTAN1

Alternate names for this Gene: DEE5|EIEE5|NEAS|SPTA2

Gene Summary: 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.11

Description of this Gene: spectrin alpha, non-erythrocytic 1

Type of Gene: protein-coding