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The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion.
Gene Name: | calcium channel, voltage-dependent, alpha 2/delta subunit 1 |
Family/Subfamily: | Ion Channel , Calcium channel - alpha subunit 2 / delta |
Synonyms: | CACNA2D1, Alpha2delta-1, CCHL2A, CACNA2, CACNL2A, DHSCCA, MHS3, RB-alpha 2, DHPR delta |
Target Sequences: | NM_000722 NP_000713.2 P54289 |
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