Species: Hu, Mu
Applications: WB, ICC/IF, IHC, IP
Host: Rabbit Polyclonal
Species: Hu, Mu, Rt
Applications: WB, Flow, ICC/IF, IHC, MA
Host: Mouse Monoclonal
Species: Hu, Mu
Applications: WB, Flow, ICC/IF, IHC
Host: Rabbit Monoclonal
Species: Hu
Applications: AC
Species: Hu
Applications: AC
Description
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. Mutations in spectrins are a previously unknown cause of ataxia and neurodegenerative disease that affect membrane proteins involved in glutamate signaling. Spectrin-beta IIIs have been recognized as ataxia disease genes and their mutations cause spinocerebellar ataxia type 5 (SCA5).
Bioinformatics
| Entrez |
Mouse
Rat
Human
|
| Uniprot |
Human
Human
Human
Human
|
| Product By Gene ID |
6712 |
| Alternate Names |
- Beta-III spectrin
- glutamate transporter EAAT4-associated protein 41
- GTRAP41
- KIAA0302
- SCA5
- spectrin beta chain, brain 2
- spectrin, beta, non-erythrocytic 2
- Spectrin, non-erythroid beta chain 2
- spinocerebellar ataxia 5
|
Research Areas for Spectrin beta 3
Find related products by research area and learn more about each of the different research areas below.
Neuroscience
