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Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. Zusätzlich bieten wir Ihnen und viele weitere Produktgruppen zu diesem Protein an.
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Cardiac beta2-spectrin and downstream molecules are regulated in multiple forms of cardiovascular disease via Ca(2+)- and calpain-dependent proteolysis.
This study indicates that high-affinity actin binding of L253P beta-III-spectrin (zeige SPTBN2 Antikörper) is a likely driver of neurodegeneration.
beta2-Spectrin, a TGF-beta (zeige TGFB1 Antikörper) mediator and signaling molecule, is cleaved and activated by caspase-3 (zeige CASP3 Antikörper)/7, consequently enhancing apoptosis and transcriptional control to determine cell fate upon liver damage.
TGF-beta (zeige TGFB1 Antikörper)/beta2-spectrin/CTCF (zeige CTCF Antikörper)-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome.
investigated using either targeted next generation sequencing or trio (zeige TRIO Antikörper)-based exome sequencing and were found to have mutations in three different genes, KCNC3 (zeige KCNC3 Antikörper), ITPR1 (zeige ITPR1 Antikörper) and SPTBN2 (zeige SPTBN2 Antikörper)
First Japanese spinocerebellar ataxia type 5 (SCA5 (zeige SPTBN2 Antikörper)) family with a novel heterozygous three-nucleotide in-frame deletion mutation in the SPTBN2 (zeige SPTBN2 Antikörper) gene.
A homozygous SPTBN2 nonsense mutation underlying infantile ataxia and psychomotor delay in a human family.
Mutant beta-III spectrin (zeige SPTBN2 Antikörper) causes mislocalization and dysfunction of mGluR1alpha at dendritic spines.
A novel missense mutation within a SPTBN2 spectrin repeat encoded by exon 12 was found in a family with spinocerebellar ataxia type 5.
the identification of SPARCA1 and normal heterozygous carriers of the stop codon in SPTBN2 provides insights into the mechanism of molecular dominance in SCA5 and demonstrates that the cell-specific repertoire of spectrin subunits
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.
, glutamate transporter EAAT4-associated protein 41
, spectrin beta chain, brain 2
, spectrin beta chain, non-erythrocytic 2
, spectrin, non-erythroid beta chain 2
, spinocerebellar ataxia 5 protein
, TPR repeat protein 14
, tetratricopeptide repeat protein 14
, tetratricopeptide repeat domain 14
, Tetratricopeptide repeat protein 14-like protein