Western blot analysis of FXN over-expressed 293 cell line, cotransfected with FXN Validated Chimera RNAi ( Cat # H00002395-R01V ) (Lane 2) or non-transfected control (Lane 1). Blot probed with FXN monoclonal antibody (M03), clone 3G9 (Cat # H00002395-M03 ). GAPDH ( 36.1 kDa ) used as specificity and loading control.
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