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The structure and function of frataxin Bencze KZ; Kondapalli KC; Cook JD; McMahon S; Millan-Pacheco C; Pastor N; Stemmler TLCrit Rev Biochem Mol Biol 2006[Sep]; 41 (5): 269-91Frataxin, 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, the general consensus is that 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.|*Models, Molecular[MESH]|Amino Acid Sequence[MESH]|Animals[MESH]|Frataxin[MESH]|Friedreich Ataxia/genetics/*metabolism[MESH]|Heme/metabolism[MESH]|Humans[MESH]|Iron-Binding Proteins/chemistry/genetics/*metabolism[MESH]|Iron/*metabolism[MESH]|Molecular Sequence Data[MESH]|Mutation[MESH]|Protein Binding[MESH]|Protein Conformation[MESH]|Sequence Homology, Amino Acid[MESH] |
