Frataxin, a highly conserved protein found in prokaryotes and eukaryotes, is required for efficient regulation of cellular iron homeostasis. Humans with a frataxin deficiency have the cardio- and neurodegenerative disorder Friedreich’s ataxia, commonly resulting from a GAA trinucleotide repeat expansion in the frataxin gene. While frataxin’s specific function remains a point of controversy, a general consensus is the protein assists in controlling cellular iron homeostasis by directly binding iron. This review focuses on the structural and biochemical aspects of iron binding by the frataxin orthologs and outlines molecular attributes that may help explain the protein’s role in different cellular pathways.
Biochemistry | Molecular Biology
Bencze, Krisztina Z.; Kondapalli, Kalyan C.; Cook, Jeremy D.; McMahon, Stephen; Millán-Pacheco, César; Pastor, Nina; and Stemmler, Timothy L., "The Structure and Function of Frataxin" (2006). Faculty Publications. Paper 3.