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PROSITE documentation PDOC01043 [for PROSITE entry PS01344]

Frataxin family signature and profile


Frataxin (gene FRDA) [1] 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 [2].

From the X-ray structure of human frataxin [3], it seems that some of the conserved residues are involved in binding one iron atom.

Frataxin is evolutionary related to the following proteins:

  • Yeast YFH1 [4], a protein that seems to be involved in the regulation of mitochondrial iron efflux.
  • Bacterial cyaY proteins of unknown function. Inactivation of the protein in E.coli has no visible phenotype [5].

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.

Technical section

PROSITE methods (with tools and information) covered by this documentation:

FRATAXIN_1, PS01344; Frataxin family signature  (PATTERN)

FRATAXIN_2, PS50810; Frataxin family profile  (MATRIX)


1AuthorsKlockgether T. Evert B.
TitleGenes involved in hereditary ataxias.
SourceTrends Neurosci. 21:413-418(1998).
PubMed ID9735950

2AuthorsRotig A. de Lonlay P. Chretien D. Foury F. Koenig M. Sidi D. Munnich A. Rustin P.
TitleAconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.
SourceNat. Genet. 17:215-217(1997).
PubMed ID9326946

3AuthorsDhe-Paganon S. Shigeta R. Chi Y.-I. Ristow M. Shoelson S.E.
SourceJ. Biol. Chem. 275:30753-30756(2000).

4AuthorsRadisky D.C. Babcock M.C. Kaplan J.
TitleThe yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle.
SourceJ. Biol. Chem. 274:4497-4499(1999).
PubMed ID9988680

5AuthorsLi D.S. Ohshima K. Jiralerspong S. Bojanowski M.W. Pandolfo M.
TitleKnock-out of the cyaY gene in Escherichia coli does not affect cellular iron content and sensitivity to oxidants.
SourceFEBS Lett. 456:13-16(1999).
PubMed ID10452520

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