FXN Chromosome 9
Frataxin
Upload your DNA to see your personal genotypes for variants in FXN.
What This Gene Does
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]
Gene Info
Gene Group
Mitochondrial iron-sulfur assembly components
Locus Type
gene with protein product
Location
9q21.11
Ensembl
ENSG00000165060
Associated Conditions (7)
Friedreich ataxia
Friedreich ataxia 1
Charcot-Marie-Tooth-like disease
FXN-related disorder
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Inborn genetic diseases
Key Variants
RS104894107
Conflicting classifications of pathogenicity
Friedreich ataxia, Friedreich ataxia 1, Friedreich ataxia
Health Risk
RS1057519131
Conflicting classifications of pathogenicity
Health Risk
RS138034837
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth-like disease, FXN-related disorder, Charcot-Marie-Tooth-like disease
Health Risk
RS141858334
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS143340609
Conflicting classifications of pathogenicity
Health Risk
RS145854903
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Inborn genetic diseases, Friedreich ataxia 1
Health Risk
RS367974156
Conflicting classifications of pathogenicity
Health Risk
RS544129099
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS576852565
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1554761915
Likely pathogenic
Health Risk
RS1554762735
Likely pathogenic
Health Risk
RS1564326640
Likely pathogenic
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894107 | Health Risk | Conflicting classifications of pathogenicity | Friedreich ataxia, Friedreich ataxia 1, Friedreich ataxia |
| RS1057519131 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138034837 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth-like disease, FXN-related disorder, Charcot-Marie-Tooth-like disease |
| RS141858334 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS143340609 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145854903 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Inborn genetic diseases, Friedreich ataxia 1 |
| RS367974156 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS544129099 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS576852565 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1554761915 | Health Risk | Likely pathogenic | — |
| RS1554762735 | Health Risk | Likely pathogenic | — |
| RS1564326640 | Health Risk | Likely pathogenic | — |
| RS1587832283 | Health Risk | Likely pathogenic | — |
| RS2133102338 | Health Risk | Likely pathogenic | Friedreich ataxia 1, Friedreich ataxia 1 |
| RS2539217018 | Health Risk | Likely pathogenic | Friedreich ataxia 1, Friedreich ataxia 1 |
| RS56214919 | Health Risk | Likely pathogenic | Friedreich ataxia, Friedreich ataxia |
| RS104894105 | Health Risk | Pathogenic | Friedreich ataxia, Friedreich ataxia |
| RS104894106 | Health Risk | Pathogenic | Friedreich ataxia, Friedreich ataxia 1, Friedreich ataxia |
| RS104894108 | Health Risk | Pathogenic | Friedreich ataxia, Friedreich ataxia 1, Friedreich ataxia |
| RS140987490 | Health Risk | Pathogenic | Friedreich ataxia, Friedreich ataxia |
| RS141935559 | Health Risk | Pathogenic | Friedreich ataxia, Friedreich ataxia |
| RS146818694 | Health Risk | Pathogenic | Friedreich ataxia 1, Friedreich ataxia 1 |
| RS193922938 | Health Risk | Pathogenic | Friedreich ataxia 1, Friedreich ataxia 1 |
| RS2539187451 | Health Risk | Pathogenic | — |
| RS372775073 | Health Risk | Pathogenic | — |
| RS886037630 | Health Risk | Pathogenic | Friedreich ataxia 1, Friedreich ataxia 1 |
| RS143232208 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Friedreich ataxia 1, Inborn genetic diseases |