Frataxin

Frataxin
PDB rendering based on 1ekg.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1ekg​, 1ly7​
Identifiers
Symbols	FXN ; FA; CyaY; FARR; FRDA; MGC57199; X25
External IDs	Template:OMIM5 Template:MGI HomoloGene: 47908
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Frataxin' is a small protein, localized to the mitochondrion. The function of frataxin is not entirely clear, but it seems to be involved in assembly of iron-sulfur clusters.

Deficiency of frataxin is the cause of Friedrich's ataxia, a hereditary trinucleotide repeat disorder.

This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified.

Further reading

• Montermini L, Rodius F, Pianese L; et al. (1995). "The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13". Am. J. Hum. Genet. 57 (5): 1061–7. PMID 7485155.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Campuzano V, Montermini L, Moltò MD; et al. (1996). "Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion". Science. 271 (5254): 1423–7. PMID 8596916.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Carvajal JJ, Pook MA, dos Santos M; et al. (1996). "The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase". Nat. Genet. 14 (2): 157–62. doi:10.1038/ng1096-157. PMID 8841185.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bidichandani SI, Ashizawa T, Patel PI (1997). "Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion". Am. J. Hum. Genet. 60 (5): 1251–6. PMID 9150176.CS1 maint: Multiple names: authors list (link)
• Babcock M, de Silva D, Oaks R; et al. (1997). "Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin". Science. 276 (5319): 1709–12. PMID 9180083.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Koutnikova H, Campuzano V, Foury F; et al. (1997). "Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin". Nat. Genet. 16 (4): 345–51. doi:10.1038/ng0897-345. PMID 9241270.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wilson RB, Roof DM (1997). "Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue". Nat. Genet. 16 (4): 352–7. doi:10.1038/ng0897-352. PMID 9241271.
• Campuzano V, Montermini L, Lutz Y; et al. (1998). "Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes". Hum. Mol. Genet. 6 (11): 1771–80. PMID 9302253.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rötig A, de Lonlay P, Chretien D; et al. (1997). "Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia". Nat. Genet. 17 (2): 215–7. doi:10.1038/ng1097-215. PMID 9326946.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Jiralerspong S, Liu Y, Montermini L; et al. (1997). "Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo". Neurobiol. Dis. 4 (2): 103–13. doi:10.1006/nbdi.1997.0139. PMID 9331900.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Koutnikova H, Campuzano V, Koenig M (1998). "Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase". Hum. Mol. Genet. 7 (9): 1485–9. PMID 9700204.CS1 maint: Multiple names: authors list (link)
• Zühlke C, Laccone F, Cossée M; et al. (1998). "Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor". Hum. Genet. 103 (1): 102–5. PMID 9737785.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bartolo C, Mendell JR, Prior TW (1999). "Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies". Am. J. Med. Genet. 79 (5): 396–9. PMID 9779809.CS1 maint: Multiple names: authors list (link)
• Cossée M, Dürr A, Schmitt M; et al. (1999). "Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes". Ann. Neurol. 45 (2): 200–6. PMID 9989622.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Coppola G, De Michele G, Cavalcanti F; et al. (1999). "Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study". J. Neurol. 246 (5): 353–7. PMID 10399865.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Branda SS, Cavadini P, Adamec J; et al. (1999). "Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase". J. Biol. Chem. 274 (32): 22763–9. PMID 10428860.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gordon DM, Shi Q, Dancis A, Pain D (1999). "Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase". Hum. Mol. Genet. 8 (12): 2255–62. PMID 10545606.CS1 maint: Multiple names: authors list (link)
• Forrest SM, Knight M, Delatycki MB; et al. (2000). "The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene". Neurogenetics. 1 (4): 253–7. PMID 10732799.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Al-Mahdawi S, Pook M, Chamberlain S (2000). "A novel missense mutation (L198R) in the Friedreich's ataxia gene". Hum. Mutat. 16 (1): 95. doi:10.1002/1098-1004(200007)16:1<95::AID-HUMU29>3.0.CO;2-E. PMID 10874325.CS1 maint: Multiple names: authors list (link)
• Dhe-Paganon S, Shigeta R, Chi YI; et al. (2000). "Crystal structure of human frataxin". J. Biol. Chem. 275 (40): 30753–6. doi:10.1074/jbc.C000407200. PMID 10900192.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• frataxin at the US National Library of Medicine Medical Subject Headings (MeSH)