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Human Monoclonal CACNA2D2 Primary Antibody für IF, ELISA - ABIN522733
Pippucci, Parmeggiani, Palombo, Maresca, Angius, Crisponi, Cucca, Liguori, Valentino, Seri, Carelli: A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. in PLoS ONE 2013
The investigation of single nucleotide polymorphisms in three genes that have a functional impact on the opioid response: OPRM1 (zeige OPRM1 Antikörper), ABCB1 (zeige ABCB1 Antikörper) and the calcium channel complex subunit CACNA2D2, is reported.
CACNA2D2 deletion/methylation is associated with cervical disease progression.
In mice, targeted disruption of Cacna2d2 led to growth retardation, reduced life span, ataxia, enhanced susceptibility to seizures, and cardiac abnormalities. Cacna2d2 may be involved in hereditary cerebellar ataxias and epileptic disorders in humans.
Although transgenic du(2J)/+ mice have a marked reduction in alpha2delta-2 protein, they show no fall in Purkinje somatic calcium currents or increase in cerebellar tyrosine hydroxylase (zeige TH Antikörper) gene expression.
Cacna2d2 is a developmental switch that limits axon growth and regeneration. Cacna2d2 gene deletion or silencing promoted axon growth in vitro.
all of the alpha(2)delta subunits studied, alpha(2)delta-1, alpha(2)delta-2, and alpha(2)delta-3 (zeige CACNA2D3 Antikörper), show all of the properties expected of glycosylphosphatidylinositol-anchored proteins, both when heterologously expressed and in native tissues.
We show that both mRNA and protein corresponding to this predicted transcript are expressed in du/du cerebellum and present in Purkinje cells
Cacna2d2 has a role in epilepsy and ataxia
Both alpha2delta-2 and CaV2.1 (zeige CACNA1A Antikörper) are normally associated with cholesterol-rich microdomains, and this influences their functionality.
This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized.
alpha 2 delta calcium channel subunit
, gene 26
, voltage-dependent calcium channel subunit alpha-2/delta-2
, voltage-gated calcium channel subunit alpha-2/delta-2
, protein ducky
, calcium channel, voltage dependent, alpha2/delta subunit 2