{"symbol":"SPTBN2","synonyms":["SCAR14","SCA5","GTRAP41"],"name":"spectrin, beta, non-erythrocytic 2","description":"Spectrins are principle components of a cell\u0027s 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]","ncbiEntrezGeneId":6712,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/6712","proteins":[{"symbol":"SPTN2_HUMAN","href":"/api/1.0/protein/SPTN2_HUMAN"}],"hgncRootFamilies":[{"name":"Pleckstrin homology domain containing (PLEKH)","href":"/api/1.0/gene_family/Pleckstrin+homology+domain+containing+%28PLEKH%29"}]}