Aliases for CACNA2D1 Gene
External Ids for CACNA2D1 Gene
Previous HGNC Symbols for CACNA2D1 Gene
Previous GeneCards Identifiers for CACNA2D1 Gene
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. [provided by RefSeq, Nov 2014]
GeneCards Summary for CACNA2D1 Gene
CACNA2D1 (Calcium Channel, Voltage-Dependent, Alpha 2/Delta Subunit 1) is a Protein Coding gene. Diseases associated with CACNA2D1 include familial short qt syndrome and timothy syndrome. Among its related pathways are MAPK signaling pathway and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include voltage-gated calcium channel activity and calcium channel regulator activity. An important paralog of this gene is CACNA2D4.
UniProtKB/Swiss-Prot for CACNA2D1 Gene
The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling (By similarity).