American Thoracic Society Conference
(Booth # 1146) in Philadelphia, PA
5/19 - 5/23
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).