FXN

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolFXN
Namefrataxin
Typeprotein-coding
Sourcemygene

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].

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