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 3 exons and codes for a protein that belongs in the potassium channel KCNE family. The kcne1 protein’s function is to regulate the activity of a potassium channel that it forms with other subunits from the genes KVLQT1 and KCNQ1. Mutations in this gene are associated with Jervell and Lange-Nielsen syndrome (JLN) and LongQT syndrome(LQTS).