FXN
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Gene Basics:
- Symbol: FXN
- Function: Frataxin regulates mitochondrial iron transport and respiration.
- Location: It resides in the nucleus but influences mitochondrial function.
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Diseases Associated:
- Friedreich Ataxia (FRDA): This rare hereditary ataxia results from FXN mutations. Lack of frataxin disrupts energy production, leading to progressive neurological symptoms.
- Hereditary Ataxia: FXN variations contribute to other forms of hereditary ataxia, affecting coordination and balance.
