Synonyms: CyaY,d-FXN,FA,FARR,Frataxin mature form,Frataxin(81-210),FRDA,FRDA,Friedreich ataxia protein,Fxn,i-FXN,m56-FXN,m78-FXN,m81-FXN,MGC57199,X25
Background: 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.