Gene Symbol | SPTBN2 |
Entrez Gene ID | 6712 |
Full Name | spectrin beta, non-erythrocytic 2 |
Synonyms | GTRAP41,SCA5,SCAR14 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Spinocerebellar ataxia 5, 600224 (3); Spinocerebellar ataxia, autosomal recessive 14, 615386 (3) |