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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.
beta SpIII sigma 1; beta-III spectrin; beta-spectrin 3; glutamate transporter EAAT4-associated protein 41; GTRAP41; KIAA0302; mKIAA0302; SCA5; SCAR14; Spectrin Beta; spectrin beta 3; spectrin beta chain, brain 2; spectrin beta chain, non-erythrocytic 2; spectrin beta III sigma 2; spectrin beta, non-erythrocytic 2; spectrin, beta, non-erythrocytic 2; spectrin, non-erythroid beta chain 2; spectrin-like protein GTRAP41; spinocerebellar ataxia 5 protein; Spnb3; SPNB-3; SPTBN2
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