Frataxin
| Frataxin | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 155/130 amino acids | |
| Precursor | Pre-frataxin (210 aa); Intermediate (169 aa) | |
| Identifier | ||
| Gene name | FXN | |
| External IDs | ||
| Transporter classification | ||
| TCDB | 9.B.21 | |
| designation | Frataxin family | |
| Occurrence | ||
| Parent taxon | Mammals | |
Frataxin (gene name: FXN ) is a small protein located in the mitochondria of eukaryotes . It is known that frataxin plays a decisive role in the formation of iron-containing and sulfur-containing proteins and in mitochondrial iron transport. Mutations in the FXN - gene can lead to hereditary frataxin deficiency.
Occurrence
Frataxin is found, for example, on the inner membrane of the mitochondria, primarily in the cerebellum , in motor neurons , pancreatic cells and cells of the heart muscle , but also in CD4 cells.
In humans, genetic defects are known for frataxin (GAA trinucleotide repeat expansion ), which lead to various clinical pictures ( Friedreich's ataxia ). Reduced frataxin formation can lead to a high iron concentration in the mitochondria of the cells, which promotes the formation of toxic free radicals . The iron concentrations in the cytoplasm are then reduced at the same time. A disturbed frataxin formation leads to a disturbance of the mitochondrial energy metabolism.
Known diseases that go back to a disorder of frataxin formation
- Friedreich's ataxia : Friedreich's ataxia is an autosomal recessive inherited disease.
- Frataxin-related cardiomyopathy : myocardial siderosis in Friedreich's ataxia. Iron accumulates in the mitochondria of heart muscle cells (myocardium) and causes a change in the energy metabolism.
- Type 2 diabetes mellitus (so-called age diabetes). A frataxin deficiency in pancreatic cells is apparently related to the development of adult diabetes.
Individual evidence
- ↑ Homologues at OMA
- ↑ Ian Napier, Prem Ponka, Des R. Richardson: Iron trafficking in the mitochondrion: novel pathways revealed by disease . In: Blood , 2005, Volume 105: pp. 1867-1874 doi : 10.1182 / blood-2004-10-3856 .
- ↑ Babcock et al. 1997.
- ↑ Wilson et al. 1997.
- ^ Napoli E, Frataxin, iron-sulfur clusters, heme, ROS, and aging . In: Antioxidant Redox Signal . 2006; 8: 506-516.
- ↑ Ristow et al., Frataxin Deficiency in Pancreatic Islets Causes Diabetes due to Loss of Beta-Cell Mass . In: Journal of Clinical Investigation , Vol 112 4, August 15, 2003.
See also
Web links
- fataxie.net: Farataxin
- The structure and function of frataxin; PMID 16911956 .