Spectrin beta 3 Antibody (SPTBN2/1584) [PE]

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).

This product is for research use only and is not approved for use in humans or in clinical diagnosis. Primary Antibodies are guaranteed for 1 year from date of receipt.

Array NBP2-54439PE

• Spectrin beta 3 Antibodies
• Spectrin beta 3 Proteins