[KD Validated] Frataxin/FXN Rabbit mAb

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. Synonyma: FA, X25, CyaY, FARR, FRDA