Aliases for CACNA2D4 Gene
External Ids for CACNA2D4 Gene
Previous GeneCards Identifiers for CACNA2D4 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for CACNA2D4 Gene
CACNA2D4 (Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 4) is a Protein Coding gene. Diseases associated with CACNA2D4 include retinal cone dystrophy 4 and immunodeficiency 13. Among its related pathways are Cardiac conduction and Integrin Pathway. GO annotations related to this gene include voltage-gated calcium channel activity and calcium channel regulator activity. An important paralog of this gene is CACHD1.
UniProtKB/Swiss-Prot for CACNA2D4 Gene
The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel.