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The CACNA2D3 gene encodes a voltage-dependent calcium channel subunit alpha-2/delta-3 protein that exists in three isoforms: isoform 1: 1,091 amino acids long, 123 kDA; isoform 2: 997 amino acids long, 112 kDA; and isoform 3: 519 amino acids long, 59 kDA. These proteins are critical in calcium current density and in activation and inactivation kinetics of the calcium channel. Additionally, these proteins function as regulatory subunits for P/Q-type calcium channel, N-type, and L-type, but not T-type. The CACNA2D3 gene participates in the transcription CREB pathway, Fc-GammaRpathway, PDGF and BMP pathways, as well as the transmission across chemical synapses. It is known to interact with genes PRKACA, PRKACB, PRKACG, YWHAB, and RAD51C. CACNA2D3 is associated with carcinoma, neuronitis, gastric cancer, night blindness, laband syndrome, hypertrichosis, and zimmermann-laband syndrome.
