Objective: To study the effect of CACNA1H gene mutation G773D on calcium channel function.
Methods: By the overlap extension PCR we introduced G773D mutation into a human Cav3.2acDNA for constructing the mutant. And then using whole cell clamp technique, we studied the alterations of channel behavior in transfected HEK-293 cells.
Results: There were no difference in kinetics of activation and inactivation of calcium channel between wild type and mutant. However comparing with the wild-type Cav3.2 channel, G773D mutant could increase the calcium current density significantly.
Conclusion: CACNA1H gene G773D mutation is able to increase calcium current and neuronal excitability.