FXN

1 article(s) in the watch · Constitutional genetics

FXN encodes mitochondrial frataxin. A GAA repeat expansion causes Friedreich ataxia.

InheritanceAutosomal recessive

Clinical spectrumProgressive ataxia, cardiomyopathy, diabetes

ManagementMultidisciplinary care; omaveloxolone approved to slow progression.

Curated publications

FXN protomutations are the source of pathogenic expanded GAA alleles in Friedreich ataxia and explain its unequal population distribution.

Friedreich ataxia