Also known as GTRAP41, SCA5, SCAR14, spectrin beta, non-erythrocytic 2
Spectrin beta chain, brain 2 is a protein that in humans is encoded by the SPTBN2 gene.
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].
Biological process
~1 min read
Spectrin beta chain, brain 2 is a protein that in humans is encoded by the SPTBN2 gene.
==Clinical significance==
via MyGene.info
via Wikidata · CC0
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).