Protein Name frataxin
Organism Homo sapiens
Gene ID 2395
Gene Symbol

FXN

UniProt Q16595 (FRDA_HUMAN), A0A0S2Z3G4 (A0A0S2Z3G4_HUMAN)
Relationships Total Number of functionally related compound(s) : 239
Total Number of Articles : 537
Description

frataxin

Gene Summary

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]

synonyms
  • frataxin, mitochondrial
  • Friedreich ataxia protein
  • CyaY
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Properties