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]

  • Oxidative phosphorylation
  • Heme biosynthetic process
  • Ion transport
  • Cellular iron ion homeostasis
  • Mitochondrion organization
  • Friedreich ataxia
  • Hereditary ataxia
  • Autosomal recessive disease
  • Vitamin e, familial isolated deficiency of
  • Hemochromatosis, type 1

Emw. Structure of the FXN protein. Based on PyMOL rendering of PDB 1ekg.

Gene Location