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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: (ALPHA)II-SPECTRIN; a--fodrin; alpha; alpha II spectrin; alpha-fodrin; Alpha-II spectrin; alpha-spectrin 2; alpha-spectrin 2, brain; brain; brain alpha-spectrin; FLJ44613; Fodrin alpha chain; inhibitory protein factor; noerythroid alpha-spectrin 2; Non erythrocytic spectrin alpha; non-erythrocytic 1 (alpha-fodrin); non-erythroid alpha chain; nonerythroid alpha-spectrin 2; Spectrin; Spectrin alpha; Spectrin alpha chain brain; spectrin alpha chain, brain; Spectrin alpha chain, non-erythrocytic 1; spectrin, non-erythroid alpha chain; Spectrin, non-erythroid alpha subunit
基因别名: 2610027H02Rik; A2a; EIEE5; IPF; NEAS; Spna-2; Spna2; SPTA2; SPTAN1
UniProt ID: (Human) Q13813, (Rat) P16086
Entrez Gene ID: (Human) 6709, (Mouse) 20740, (Rat) 64159