|PROSITE documentation PDOC01043|
Frataxin (gene FRDA)  is a mitochondrial protein, which is involved in Friedreich's ataxia (FA), an autosomal recessive, progressive degenerative disease characterized by neurodegeneration, cardiomyopathy and diabetes mellitus. Frataxin defect causes mitochondrial iron accumulation, which could lead to specific deficiency in the activities of aconitases and of mitochondrial iron-sulfur dependent enzymes, as suggested by biochemical data .
From the X-ray structure of human frataxin , it seems that some of the conserved residues are involved in binding one iron atom.
Frataxin is evolutionary related to the following proteins:
As a signature pattern, we selected a conserved region in the central section of these proteins. We also developed a profile that covers the whole conserved region.Last update:
April 2006 / Pattern revised.
PROSITE methods (with tools and information) covered by this documentation:
|1||Authors||Klockgether T. Evert B.|
|Title||Genes involved in hereditary ataxias.|
|Source||Trends Neurosci. 21:413-418(1998).|
|2||Authors||Rotig A. de Lonlay P. Chretien D. Foury F. Koenig M. Sidi D. Munnich A. Rustin P.|
|Title||Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.|
|Source||Nat. Genet. 17:215-217(1997).|
|3||Authors||Dhe-Paganon S. Shigeta R. Chi Y.-I. Ristow M. Shoelson S.E.|
|Source||J. Biol. Chem. 275:30753-30756(2000).|
|4||Authors||Radisky D.C. Babcock M.C. Kaplan J.|
|Title||The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle.|
|Source||J. Biol. Chem. 274:4497-4499(1999).|
|5||Authors||Li D.S. Ohshima K. Jiralerspong S. Bojanowski M.W. Pandolfo M.|
|Title||Knock-out of the cyaY gene in Escherichia coli does not affect cellular iron content and sensitivity to oxidants.|
|Source||FEBS Lett. 456:13-16(1999).|