Anti-Frataxin (Marker of Friedreich Ataxia) Monoclonal Antibody (Clone: FXN/2124)

Frataxin is a nuclear-encoded mitochondrial protein implicated in Friedreich's ataxia (FRDA), a human autosomal recessive neurodegenerative disease. Lack of Frataxin causes iron to accumulate in the mitochondrial matrix sµggesting that Frataxin is involved in mitochondrial iron homeostasis and possibly in iron transport. Frataxin has an alpha-beta fold consisting of two helices flanking an antiparallel beta sheet. Protein function: Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+), the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization, however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems. Modulates the RNA-binding activity of ACO1. [The UniProt Consortium]