Please be on the look out for
Ambry Representatives at :
National Society of Genetic Counselors 2014
NSGC 33rd Annual Education Conference
Ernest N. Morial Convention Center
New Orleans, Louisiana
09/17/14 - 09/20/14
This gene is composed of 39 exons and codes for a protein that is part of a subunit of voltage-dependent calcium channels complex. It is believed that this protein is involved in regulating calcium current density and the activation and inactivation kinetics of the calcium channel. Mutations in the gene have been shown to cause short QT syndrome (SQTS).