Aliases for FXN Gene
External Ids for FXN Gene
Previous HGNC Symbols for FXN Gene
Previous GeneCards Identifiers for FXN Gene
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]
GeneCards Summary for FXN Gene
FXN (Frataxin) is a Protein Coding gene. Diseases associated with FXN include Friedreich Ataxia 1 and Vitamin E, Familial Isolated Deficiency Of. Among its related pathways are Metabolism and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include iron-sulfur cluster binding and ferrous iron binding.
UniProtKB/Swiss-Prot for FXN Gene
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.