CART
| UniProt Number: | Q16595 |
| Alternate Names: | Friedreich ataxia protein (Short name=Fxn), Cleaved into the following 3 chains: Frataxin intermediate form, Frataxin(56-210), Frataxin(81-210) |
| Structure and Function: |
Frataxin is a 17 kDa nuclear-encoded mitochondrial protein. In humans the gene is localized on chromosome 9 and is highly conserved during evolution. The gene is expressed in every cell, although in varying levels in different tissues and during development. The specific function of frataxin is still unknown, but it has been shown to play a role in iron metabolism. Studies have demonstrated that the deletion of the frataxin gene in yeast results in iron accumulation in mitochondria and loss of respiration. Recombinant human frataxin has been shown to bind iron in vitro, and increased mitochondrial iron levels have been observed in patients with Friedreich's Ataxia (FRDA). |
| Disease Associations: | FRDA is an inherited recessive neurodegenerative disorder caused by decreased expression levels of frataxin. The most common mutation causing FRDA is the expansion of the GAA triplet repeat. Disease-associate repeats have 100 to 1700 triplets within the first intron of both copies of the gene. |
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