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).

Long Name

Spectrin Beta, Non-Erythrocytic 2

Alternate Names

GTRAP41, SCA5, SCAR14, Spectrin beta 3, Spectrin beta III, SPTBN2

Gene Symbol

SPTBN2

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Product Documents for Spectrin beta 3 Antibody (SPTBN2/2887R) [Alexa Fluor™ Plus 647]

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Product Specific Notices for Spectrin beta 3 Antibody (SPTBN2/2887R) [Alexa Fluor™ Plus 647]

This product is provided under an intellectual property license from Life Technologies Corporation. The transfer of this product is conditioned on the buyer using the purchased product solely in research conducted by the buyer, excluding contract research or any fee for service research, and the buyer must not (1) use this product or its components for (a) diagnostic, therapeutic or prophylactic purposes; (b) testing, analysis or screening services, or information in return for compensation on a per-test basis; or (c) manufacturing or quality assurance or quality control, and/or (2) sell or transfer this product or its components for resale, whether or not resold for use in research. For information on purchasing a license to this product for purposes other than as described above, contact Life Technologies Corporation, 5781 Van Allen Way, Carlsbad, CA 92008 USA or outlicensing@thermofisher.com. This conjugate is made on demand. Actual recovery may vary from the stated volume of this product. The volume will be greater than or equal to the unit size stated on the datasheet.

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.

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Spectrin beta 3 Antibody (SPTBN2/2887R) [Alexa Fluor™ Plus 647]

Novus Biologicals, part of Bio-Techne | Catalog # NBP3-08441AFP647

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Background: beta-III Spectrin