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非红细胞血影脑蛋白β2/spectrinβIII抗体
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SPTBN2 半岛bd体育手机客户端 别名： GTRAP41； SCA5； SCAR14； SPTBN2； spectrin beta, non-erythrocytic 2； spectrin beta, non-erythrocytic 2； spectrin beta chain, non-erythrocytic 2； beta-III spectrin； glutamate transporter EAAT4-associated protein 41； spectrin beta III sigma 2； spectrin beta chain, brain 2； spectrin, non-erythroid beta chain 2； spinocerebellar ataxia 5 protein； 非红细胞血影脑蛋白β2/spectrinβIII； 背景信息：
Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009],
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