Gene: FXN

Alternate names for this Gene: CyaY|FA|FARR|FRDA|X25

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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q21.11

Description of this Gene: frataxin

Type of Gene: protein-coding

rs104894105 in FXN gene and FRIEDREICH ATAXIA 1 PMID 9150176 1997 Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.

PMID 9989622 1999 Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.

PMID 10874325 2000 A novel missense mutation (L198R) in the Friedreich's ataxia gene.

PMID 10732799 1998 The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.

PMID 19629184 2009 The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.

PMID 9779809 1998 Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies.

rs4596713 in FXN gene and Headache PMID 29397368 2018 A Genome-Wide Association Study Finds Genetic Associations with Broadly-Defined Headache in UK Biobank (N=223,773).

rs7870295 in FXN gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.