Frataxin_Cyay

• PFAM accession number: PF01491
• Interpro abstract (IPR002908):

  The eukaryotic proteins in this entry include frataxin, the protein that is mutated in Friedreich's ataxia [ (PUBMED: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) [ (PUBMED:8596916) (PUBMED:8815938) (PUBMED:9241270) ].

  The bacterial proteins in this entry are iron-sulphur cluster (FeS) metabolism CyaY proteins homologous to eukaryotic frataxin. Partial Phylogenetic Profiling [ (PUBMED: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 [ (PUBMED:16603772) (PUBMED:16428423) ].

• GO process: iron-sulfur cluster assembly (GO:0016226)
• GO function: ferric iron binding (GO:0008199)

This is a PFAM domain. For full annotation and more information, please see the PFAM entry Frataxin_Cyay