Frataxin

"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.

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: FXN frataxin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2395| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Montermini L, Rodius F, Pianese L, "et al." |title=The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13. |journal=Am. J. Hum. Genet. |volume=57 |issue= 5 |pages= 1061–7 |year= 1995 |pmid= 7485155 |doi=
*cite journal | author=Campuzano V, Montermini L, Moltò MD, "et al." |title=Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. |journal=Science |volume=271 |issue= 5254 |pages= 1423–7 |year= 1996 |pmid= 8596916 |doi=
*cite journal | author=Carvajal JJ, Pook MA, dos Santos M, "et al." |title=The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase. |journal=Nat. Genet. |volume=14 |issue= 2 |pages= 157–62 |year= 1996 |pmid= 8841185 |doi= 10.1038/ng1096-157
*cite journal | author=Bidichandani SI, Ashizawa T, Patel PI |title=Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. |journal=Am. J. Hum. Genet. |volume=60 |issue= 5 |pages= 1251–6 |year= 1997 |pmid= 9150176 |doi=
*cite journal | author=Babcock M, de Silva D, Oaks R, "et al." |title=Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. |journal=Science |volume=276 |issue= 5319 |pages= 1709–12 |year= 1997 |pmid= 9180083 |doi=
*cite journal | author=Koutnikova H, Campuzano V, Foury F, "et al." |title=Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. |journal=Nat. Genet. |volume=16 |issue= 4 |pages= 345–51 |year= 1997 |pmid= 9241270 |doi= 10.1038/ng0897-345
*cite journal | author=Wilson RB, Roof DM |title=Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. |journal=Nat. Genet. |volume=16 |issue= 4 |pages= 352–7 |year= 1997 |pmid= 9241271 |doi= 10.1038/ng0897-352
*cite journal | author=Campuzano V, Montermini L, Lutz Y, "et al." |title=Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. |journal=Hum. Mol. Genet. |volume=6 |issue= 11 |pages= 1771–80 |year= 1998 |pmid= 9302253 |doi=
*cite journal | author=Rötig A, de Lonlay P, Chretien D, "et al." |title=Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. |journal=Nat. Genet. |volume=17 |issue= 2 |pages= 215–7 |year= 1997 |pmid= 9326946 |doi= 10.1038/ng1097-215
*cite journal | author=Jiralerspong S, Liu Y, Montermini L, "et al." |title=Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo. |journal=Neurobiol. Dis. |volume=4 |issue= 2 |pages= 103–13 |year= 1997 |pmid= 9331900 |doi= 10.1006/nbdi.1997.0139
*cite journal | author=Koutnikova H, Campuzano V, Koenig M |title=Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase. |journal=Hum. Mol. Genet. |volume=7 |issue= 9 |pages= 1485–9 |year= 1998 |pmid= 9700204 |doi=
*cite journal | author=Zühlke C, Laccone F, Cossée M, "et al." |title=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. |journal=Hum. Genet. |volume=103 |issue= 1 |pages= 102–5 |year= 1998 |pmid= 9737785 |doi=
*cite journal | author=Bartolo C, Mendell JR, Prior TW |title=Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. |journal=Am. J. Med. Genet. |volume=79 |issue= 5 |pages= 396–9 |year= 1999 |pmid= 9779809 |doi=
*cite journal | author=Cossée M, Dürr A, Schmitt M, "et al." |title=Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. |journal=Ann. Neurol. |volume=45 |issue= 2 |pages= 200–6 |year= 1999 |pmid= 9989622 |doi=
*cite journal | author=Coppola G, De Michele G, Cavalcanti F, "et al." |title=Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study. |journal=J. Neurol. |volume=246 |issue= 5 |pages= 353–7 |year= 1999 |pmid= 10399865 |doi=
*cite journal | author=Branda SS, Cavadini P, Adamec J, "et al." |title=Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase. |journal=J. Biol. Chem. |volume=274 |issue= 32 |pages= 22763–9 |year= 1999 |pmid= 10428860 |doi=
*cite journal | author=Gordon DM, Shi Q, Dancis A, Pain D |title=Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase. |journal=Hum. Mol. Genet. |volume=8 |issue= 12 |pages= 2255–62 |year= 1999 |pmid= 10545606 |doi=
*cite journal | author=Forrest SM, Knight M, Delatycki MB, "et al." |title=The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. |journal=Neurogenetics |volume=1 |issue= 4 |pages= 253–7 |year= 2000 |pmid= 10732799 |doi=
*cite journal | author=Al-Mahdawi S, Pook M, Chamberlain S |title=A novel missense mutation (L198R) in the Friedreich's ataxia gene. |journal=Hum. Mutat. |volume=16 |issue= 1 |pages= 95 |year= 2000 |pmid= 10874325 |doi= 10.1002/1098-1004(200007)16:1<95::AID-HUMU29>3.0.CO;2-E |doilabel=10.1002/1098-1004(200007)16:195::AID-HUMU293.0.CO;2-E
*cite journal | author=Dhe-Paganon S, Shigeta R, Chi YI, "et al." |title=Crystal structure of human frataxin. |journal=J. Biol. Chem. |volume=275 |issue= 40 |pages= 30753–6 |year= 2000 |pmid= 10900192 |doi= 10.1074/jbc.C000407200

External links

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