| FRDA1 |
|---|
| Full Name | FXN (Frataxin) |
| Chromosomal Location | 9q21.11 |
| NCBI Gene ID | 2395 |
| OMIM | 229300 |
| UniProt ID | Q16595 |
| Category | Mitochondrial Protein |
The FRDA1 gene encodes FXN (Frataxin), a mitochondrial protein protein. It is involved in various cellular processes relevant to neurodegeneration.
FXN (Frataxin) is a mitochondrial protein essential for iron-sulfur cluster (Fe-S) biogenesis and mitochondrial iron homeostasis. It plays a critical role in the assembly of Fe-S clusters, which are essential cofactors for enzymes involved in oxidative phosphorylation and DNA repair. Frataxin deficiency leads to mitochondrial dysfunction and oxidative stress.
| Disease |
Role in Disease |
| Friedreich Ataxia |
GAA repeat expansion in intron 1 reduces frataxin expression, causing neurodegeneration |
| Cardiomyopathy |
Frataxin deficiency causes hypertrophic cardiomyopathy |
| Diabetes |
Associated with Friedreich ataxia diabetes |
- Campuzano et al., Frataxin and Friedreich ataxia. Science. 1996
- Puccio et al., Frataxin and mitochondrial iron homeostasis. Nat Genet. 2001
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- Neuroinflammation in neurodegenerative disease - Heneka MT, et al. Lancet Neurol. 2015.
- Cellular and molecular mechanisms of neurodegeneration - Jellinger KA. J Neural Transm. 2018.
- Therapeutic strategies for neurodegenerative disorders - Schapira AHV, et al. Lancet Neurol. 2017.
- Biomarkers for neurodegenerative diseases - Zetterberg H, et al. Nat Rev Neurol. 2016.