| Background |
Voltage-dependent calcium channel subunit alpha2delta-2 is a protein that in humans is encoded by the CACNA2D2 gene. This gene is mapped to 3p21.31. It 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. |
| Reference |
1. Brill, J., Klocke, R., Paul, D., Boison, D., Gouder, N., Klugbauer, N., Hofmann, F., Becker, C.-M., Becker, K.Entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse. J. Biol. Chem. 279: 7322-7330, 2004.
2. Brodbeck, J., Davies, A., Courtney, J.-M., Meir, A., Balaguero, N., Canti, C., Moss, F. J., Page, K. M., Pratt, W. S., Hunt, S. P., Barclay, J., Rees, M., Dolphin, A. C. The ducky mutation in Cacna2d2 results in altered Purkinje cell morphology and is associated with the expression of a truncated alpha-2/delta-2 protein with abnormal function. J. Biol. Chem. 277: 7684-7693, 2002. |
