gopubmed logo
 
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

Spectrin, beta, non-erythrocytic 2

SCA5, SPTBN2, beta-III spectrin, GTRAP41, KIAA0302
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. [provided by RefSeq, Dec 2009] (from NCBI)
Papers on SCA5
Differential gene expression profile in PBMCs from subjects with AERD and ATA: a gene marker for AERD.
GeneRIF
Park et al., Puch'ŏn, South Korea. In Mol Genet Genomics, 2012
two gene markers (CNKSR3 and SPTBN2) differentiate between aspirin-exacerbated respiratory disease and aspirin-tolerant asthma with a perfect discriminative power
Spinocerebellar ataxia type 5.
GeneRIF
Ranum et al., Minneapolis, United States. In Handb Clin Neurol, 2011
This review summarizes data showing that beta-III spectrin mutations are a novel cause of neurodegenerative disease, which may affect the stabilization or trafficking of membrane proteins.
Apparent structural differences at the tetramerization region of erythroid and nonerythroid beta spectrin as discriminated by phage displayed scFvs.
GeneRIF
Fung et al., Chicago, United States. In Protein Sci, 2011
Results suggest that it is possible for cellular proteins to differentially associate with the C-termini of different beta-spectrin isoforms to regulate alpha- and beta-spectrin association to form functional spectrin tetramers.
Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.
GeneRIF
Jackson et al., Edinburgh, United Kingdom. In J Neurosci, 2010
A mouse model lacking full-length beta-III spectrin reproduces features of human spinocerebellar ataxia type 5 including gait abnormalities, tremor, deteriorating motor coordination, Purkinje cell loss, and cerebellar atrophy.
Role of transforming growth factor beta signaling and expansion of progenitor cells in regenerating liver.
GeneRIF
Mishra et al., Washington, D.C., United States. In Hepatology, 2010
TGF-beta signaling, particularly beta2SP, plays a critical role in hepatocyte proliferation and transitional phenotype.
share on facebooktweetadd +1mail to friends