MitoSciences: Frataxin

UniProt Number:	Q16595
Alternate Names:	Friedreich ataxia protein, Frataxin intermediate form, Frataxin(56-210), Frataxin(81-210)
Structure and Function:	Frataxin is a 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. FRDA is the most common inherited ataxia and it causes progressive damage to the nervous system, resulting in symptoms ranging from muscle weakness and speech problems to heart disease. About one in 50,000 people in the United States have Friedreich's Ataxia. Symptoms usually appear between the ages of 5 and 15.

Subscribe to MitoNews™