SPTBN2 est un gène codé par le symbole SPTBN2. Il est également connu sous le nom de: Spectrin beta chain, non-erythrocytic 2; Beta-III spectrin; Spinocerebellar ataxia 5 protein; KIAA0302; SCA5. SPTBN2 a une masse de 271.33kDa, une longueur d'acide aminé de 2390, et est impliqué dans les maladies: Spinocerebellar ataxia 5; Spinocerebellar ataxia, autosomal recessive, 14.
Nous proposons 20 des anticorps contre SPTBN2, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF et Cytométrie en Flux avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Probably plays an important role in neuronal membrane skeleton.
Résumé Entrez
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.
Spécificité tissulaire
Highly expressed in brain, kidney, pancreas, and liver, and at lower levels in lung and placenta.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the spectrin family.
Localisation cellulaire
Cytoplasm > Cytoskeleton. Cytoplasm > Cell cortex.
