Description
Product Characteristics: FunctionPromotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe2+ 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 Fe2+ to Fe3+, 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. Modulates the RNA-binding activity of ACO1. SUBCELLULAR LOCATION: Cytoplasm By similarity. Mitochondrion. Note: reportedly, localizes exclusively in mitochondria. Tissue specificity: Heart, liver, skeletal muscle, kidney, spleen and thymus. Weakly expressed in the brain and lung.,Neurodegeneration,Fxn, Fxn, Frda
Target Information: This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]