基因名：
SPTAN1
产品别名：
DEE5； EIEE5； NEAS； SPTA2； SPTAN1； spectrin alpha, non-erythrocytic 1； spectrin alpha, non-erythrocytic 1； spectrin alpha chain, non-erythrocytic 1； alpha-II spectrin； alpha-fodrin； epididymis secretory sperm binding protein； fodrin alpha chain； spectrin, non-erythroid alpha chain； spectrin, non-erythroid alpha subunit； a-包衬蛋白； α-胞衬蛋白(SPTAN1)； 胰岛素启动因子1(IPF)； 血影蛋白A链非红细胞型；
背景信息：
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]
