NP_032070.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
Molecular Weight
22,924 Da
NCBI Official Full Name
frataxin, mitochondrial
NCBI Official Synonym Full Names
frataxin
NCBI Protein Information
frataxin, mitochondrial
UniProt Protein Name
Frataxin, mitochondrial
UniProt Synonym Gene Names
UniProt Entry Name
FRDA_MOUSE
UniProt Comments for FXN
FXN: 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. Defects in FXN are the cause of Friedreich ataxia (FRDA). FRDA is an autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region. Belongs to the frataxin family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Mitochondrial; EC 1.16.3.1; Motility/polarity/chemotaxis
Cellular Component: mitochondrion; cell; cytoplasm; cytosol
Molecular Function: ferroxidase activity; 2 iron, 2 sulfur cluster binding; enzyme binding; ferric iron binding; metal ion binding; ferrous iron binding; iron-sulfur cluster binding; oxidoreductase activity
Biological Process: cellular iron ion homeostasis; positive regulation of axon extension; proprioception; adult walking behavior; embryonic development ending in birth or egg hatching; protein autoprocessing; iron incorporation into metallo-sulfur cluster; positive regulation of lyase activity; transport; positive regulation of cell proliferation; response to iron ion; positive regulation of oxidoreductase activity; oxidative phosphorylation; mitochondrion organization and biogenesis; negative regulation of multicellular organism growth; iron-sulfur cluster assembly; positive regulation of metalloenzyme activity; positive regulation of transferase activity; negative regulation of organ growth; positive regulation of cell growth; iron ion homeostasis; aerobic respiration; ion transport; negative regulation of apoptosis; heme biosynthetic process
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Products associated with FXN sirna
Pathways associated with FXN sirna
Diseases associated with FXN sirna
Organs/Tissues associated with FXN sirna
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