Loss of Cav1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

Cav1.3 calcium channels are critical for neurotransmitter release in auditory hair cells and cardiac pacemaking. The authors identified a mutation in CACNA1D, which encodes the pore-forming α1-subunit of Cav1.3, in deaf humans. These individuals also exhibited bradycardia. The insertion of a glycine residue near the pore resulted in nonconducting...