Conserved Site

Frataxin conserved site (IPR020895)

Short name: Frataxin_CS

Description

The eukaryotic proteins in this entry include frataxin, the protein that is mutated in Friedreich's ataxia [PMID: 8931268], and related sequences. 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].

The bacterial proteins in this entry are iron-sulphur cluster (FeS) metabolism CyaY proteins hmologous to eukaryotic frataxin. Partial Phylogenetic Profiling [PMID: 16930487] suggests that CyaY most likely functions as part of the ISC system for FeS cluster biosynthesis, and is supported by expermimental data in some species [PMID: 16603772, PMID: 16428423].

This conserved site covers a conserved region in the central section of these proteins.

Contributing signatures

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