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 1 exon and codes for an abundant transmembrane sarcoplasmic reticulum phosphoprotein that regulates the Ca2+-ATPase. This gene product is a key regulator of cardiac diastolic function. Mutations in this gene have been associated with dilated cardiomyopathy (DCM).