| ncRNA Symbol: | SPTBN2 | | Full Name: | spectrin beta, non-erythrocytic 2 | | Category: | mRNA | | Synonyms: | GTRAP41|SCA5|SCAR14 | | Chromosome: | chr11 | | Strand: | - | | Coordinate: | | Start Site(bp): | 66685248 | End Site(bp): | 66729226 | | | Gene Summary: | 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] | | External Links: | |
|