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Mouse Anti-SPTBN2 Recombinant Antibody (SCNB3-1) (CBMAB-S6557-CQ)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
SCNB3-1
Antibody Isotype
IgG
Application
FC, IF, IHC

Basic Information

Specificity
Human
Antibody Isotype
IgG
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS, pH 7.4, 0.1 mg/mL BSA
Preservative
0.05% sodium azide
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
spectrin, beta, non-erythrocytic 2
Introduction
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.
Entrez Gene ID
6712
UniProt ID
O15020
Alternative Names
Spectrin Beta, Non-Erythrocytic 2; Spinocerebellar Ataxia 5 Protein; Beta-III Spectrin; SCA5; Glutamate Transporter EAAT4-Associated Protein 41; Spectrin Beta Chain, Non-Erythrocytic 2; Spectrin, Non-Erythroid Beta Chain 2;
Function
Probably plays an important role in neuronal membrane skeleton.
Biological Process
Biological Process actin cytoskeleton organizationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process actin filament cappingIEA:UniProtKB-KW
Biological Process adult behaviorIEA:Ensembl
Biological Process cerebellar Purkinje cell layer morphogenesisIEA:Ensembl
Biological Process multicellular organism growthIEA:Ensembl
Biological Process postsynapse organizationIEA:Ensembl
Biological Process synapse assemblyIEA:Ensembl
Biological Process vesicle-mediated transportManual Assertion Based On ExperimentIDA:UniProtKB
Cellular Location
Cytoplasm, cytoskeleton
Cytoplasm, cell cortex
Involvement in disease
Spinocerebellar ataxia 5 (SCA5):
Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years.
Spinocerebellar ataxia, autosomal recessive, 14 (SCAR14):
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR14 is characterized by delayed psychomotor development, severe early onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability.
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For research use only. Not intended for any clinical use.

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