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CACNA2D4 encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Zusätzlich bieten wir Ihnen Calcium Channel, Voltage-Dependent, alpha 2/delta Subunit 4 Antikörper (41) und viele weitere Produktgruppen zu diesem Protein an.
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This report describes a distinctive ERG (zeige ERG Proteine) phenotype, predominantly involving the cone pathways, in 2 unrelated patients from different ethnic backgrounds with homozygous mutations in CACNA2D4 and normal retinal imaging
A rare, partial deletion of 35.7 kb in CACNA2D4 in two unrelated late onset bipolar I patients and in one control individual, were identified.
Eliminating a2d4 in mice abolishes rod synaptogenesis and synaptic transmission to rod ON bipolar cells, and disrupts postsynaptic mGluR6 (zeige GRM6 Proteine) clustering. Further find , a2d4 is crucial for organizing synaptic ribbons and setting CaV1.4 (zeige CACNA1F Proteine) voltage sensitivity. In cones, a2d4 is essential for CaV1.4 (zeige CACNA1F Proteine) function, but is not required for ribbon organization, synaptogenesis, or synaptic transmission.
alpha2delta4 E25b (zeige ITM2B Proteine) splicing variant is normally present in mouse retina and mimics the effect of c.2451insC mutation.
The Cacna2d4 mutation underlies a novel channelopathy leading to cone-rod dysfunction in the visual system of mice
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 have been observed but have not been thoroughly characterized.
voltage-gated calcium channel alpha(2)delta-4 subunit
, calcium channel, voltage-dependent, alpha 2/delta subunit 4
, calcium channel, voltage-dependent, alpha 2/delta 3 subunit B
, voltage-gated calcium channel alpha(2)delta-4 subunit-like
, voltage-dependent calcium channel subunit alpha-2/delta-4
, voltage-gated calcium channel subunit alpha-2/delta-4