SPTBN2

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.

spectrin, beta, non-erythrocytic 2

Probably plays an important role in neuronal membrane skeleton.

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

Cytoplasm, cytoskeleton
Cytoplasm, cell cortex

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.