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 2 exons and codes for an integral membrane protein that is an inward-rectifier type potassium (Kir) channel, which is controlled by G-proteins. This protein is voltage-dependent, and as extracellular levels of potassium rise, normally functioning protein allow for repolarization. Mutations in this gene have been associated with Sudden Infant Death syndrome (SIDS), J-wave syndromes and other disorders characterized by early repolarization.
An alteration in this gene was identified in a patient who underwent diagnostic exome sequencing at Ambry Genetics.