Frataxin (IPR017789)

Short name: Frataxin

Overlapping homologous superfamilies

Family relationships


Frataxin is a mitochondrial protein, mutation of which leads to the disease Friedreich's ataxia [PMID: 8931268]. Its orthologs are widely distributed in the bacteria, associated with the ISC system for iron-sulphur cluster assembly, and designated CyaY. Friedreich's ataxia is a progressive neurodegenerative disorder caused by loss of function mutations in the gene encoding frataxin (FRDA). Frataxin mRNA is predominantly expressed in tissues with a high metabolic rate (including liver, kidney, brown fat and heart). Mouse and yeast frataxin homologues contain a potential N-terminal mitochondrial targeting sequence, and human frataxin has been observed to co-localise with a mitochondrial protein. Furthermore, disruption of the yeast gene has been shown to result in mitochondrial dysfunction. Friedreich's ataxia is thus believed to be a mitochondrial disease caused by a mutation in the nuclear genome (specifically, expansion of an intronic GAA triplet repeat) [PMID: 8596916, PMID: 8815938, PMID: 9241270].

GO terms

Biological Process

GO:0055114 oxidation-reduction process

Molecular Function

GO:0004322 ferroxidase activity

Cellular Component

GO:0005739 mitochondrion

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.