NP_000135.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
21,416 Da
NCBI Official Full Name
frataxin, mitochondrial isoform 1 preproprotein
NCBI Official Synonym Full Names
frataxin
NCBI Protein Information
frataxin, mitochondrial
UniProt Protein Name
Frataxin, mitochondrial
UniProt Synonym Protein Names
Friedreich ataxia protein; Fxn
UniProt Synonym Gene Names
NCBI Summary for FXN
This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
UniProt Comments for FXN
Promotes 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; 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.
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Products associated with FXN recombinant protein
Pathways associated with FXN recombinant protein
Diseases associated with FXN recombinant protein
Organs/Tissues associated with FXN recombinant protein
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