FXN( Human )

Entrez Gene 2395 Entrez Gene 2395
frataxin

Alias

CyaY|FARR|FRDA|X25

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].

Product Category