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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.
Gene Name: | spectrin, beta, non-erythrocytic 2 |
Synonyms: | SPTBN2, Beta-III spectrin, GTRAP41, SCA5, Spectrin beta chain, brain 2, Spinocerebellar ataxia 5, KIAA0302 |
Target Sequences: | NM_006946 NP_008877.1 O15020 |
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