SPTBN2 ist ein Gen, das durch das Symbol SPTBN2 kodiert wird. Es ist auch bekannt als: Spectrin beta chain, non-erythrocytic 2; Beta-III spectrin; Spinocerebellar ataxia 5 protein; KIAA0302; SCA5. SPTBN2 hat eine Masse von 271.33kDa, eine Aminosäurelänge von 2390, und ist an folgenden Krankheiten beteiligt: Spinocerebellar ataxia 5; Spinocerebellar ataxia, autosomal recessive, 14.
Wir bieten 20 antikörper gegen SPTBN2, aufgewachsen in Kaninchen und Maus, welche geeignet sind für WB, IHC, ELISA, ICC/IF and FC mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Probably plays an important role in neuronal membrane skeleton.
Entrez Zusammenfassung
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.
Gewebespezifität
Highly expressed in brain, kidney, pancreas, and liver, and at lower levels in lung and placenta.
Rolle bei Krankheiten
Spinocerebellar ataxia 5: 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: 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.
Sequenzähnlichkeiten
Belongs to the spectrin family.
Zellort
Cytoplasm > Cytoskeleton. Cytoplasm > Cell cortex.
