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 5 exons and codes for a protein that is found in mitochondria. It is believed the protein acts as iron chaperone involved in iron-sulfur biogenesis and heme biosynthesis. It appears that frataxin is a key component in the mitochondrial oxidative phosphorylation. Mutations in this gene are associated with hypertrophic cardiomyopathy (HCM).