Frataxin
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| Frataxin | |||||||||||
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PDB rendering based on 1ekg. | |||||||||||
| Available structures | |||||||||||
| 1ekg, 1ly7 | |||||||||||
| Identifiers | |||||||||||
| Symbols | FXN; FA; CyaY; FARR; FRDA; MGC57199; X25 | ||||||||||
| External IDs | OMIM: 606829 MGI: 1096879 HomoloGene: 47908 GeneCards: FXN Gene | ||||||||||
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| RNA expression pattern | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 2395 | 14297 | |||||||||
| Ensembl | ENSG00000165060 | ENSMUSG00000059363 | |||||||||
| UniProt | Q16595 | Q3TV21 | |||||||||
| RefSeq (mRNA) | NM_000144 | XM_989030 | |||||||||
| RefSeq (protein) | NP_000135 | XP_994124 | |||||||||
| Location (UCSC) | Chr 9: 70.84 - 70.88 Mb | Chr 19: 24.33 - 24.35 Mb | |||||||||
| PubMed search | [1] | [2] | |||||||||
Frataxin is a protein that in humans is encoded by the FXN gene.[1][2]
Frataxin is localized to the mitochondrion. The function of frataxin is not entirely clear, but it seems to be involved in assembly of iron-sulfur clusters. It has been proposed to act as either an iron chaperone or an iron storage protein.[3]
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Clinical significance
Reduced expression of frataxin is the cause of Friedrich's ataxia (FRDA), a lethal neurodegenerative disease. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia.[4]
An overexpression of frataxin in Drosophila has shown an increase in antioxidant capability, resistance to oxidative stress insults and longevity.[5]
Interactions
Frataxin has been shown to interact with PMPCB.[6]
References
- ^ Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M (March 1996). [Expression error: Missing operand for > "Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion"]. Science 271 (5254): 1423–7. PMID 8596916.
- ^ Carvajal JJ, Pook MA, dos Santos M, Doudney K, Hillermann R, Minogue S, Williamson R, Hsuan JJ, Chamberlain S (October 1996). [Expression error: Missing operand for > "The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase"]. Nat. Genet. 14 (2): 157–62. doi:. PMID 8841185.
- ^ Adinolfi S, Iannuzzi C, Prischi F, Pastore C, Iametti S, Martin SR, Bonomi F, Pastore A (April 2009). [Expression error: Missing operand for > "Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS"]. Nat. Struct. Mol. Biol. 16 (4): 390–6. doi:. PMID 19305405.
- ^ "Entrez Gene: FXN frataxin". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2395.
- ^ Runko AP, Griswold AJ, Min KT (March 2008). [Expression error: Missing operand for > "Overexpression of frataxin in the mitochondria increases resistance to oxidative stress and extends lifespan in Drosophila"]. FEBS Lett. 582 (5): 715–9. doi:. PMID 18258192.
- ^ Koutnikova, H; Campuzano V, Koenig M (Sep. 1998). [Expression error: Missing operand for > "Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase"]. Hum. Mol. Genet. (ENGLAND) 7 (9): 1485–9. ISSN 0964-6906. PMID 9700204.
Further reading
- Montermini L, Rodius F, Pianese L, et al. (1995). [Expression error: Missing operand for > "The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13."]. Am. J. Hum. Genet. 57 (5): 1061–7. PMID 7485155.
- Bidichandani SI, Ashizawa T, Patel PI (1997). [Expression error: Missing operand for > "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.
- Babcock M, de Silva D, Oaks R, et al. (1997). [Expression error: Missing operand for > "Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin."]. Science 276 (5319): 1709–12. doi:. PMID 9180083.
- Koutnikova H, Campuzano V, Foury F, et al. (1997). [Expression error: Missing operand for > "Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin."]. Nat. Genet. 16 (4): 345–51. doi:. PMID 9241270.
- Wilson RB, Roof DM (1997). [Expression error: Missing operand for > "Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue."]. Nat. Genet. 16 (4): 352–7. doi:. PMID 9241271.
- Campuzano V, Montermini L, Lutz Y, et al. (1998). [Expression error: Missing operand for > "Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes."]. Hum. Mol. Genet. 6 (11): 1771–80. doi:. PMID 9302253.
- Rötig A, de Lonlay P, Chretien D, et al. (1997). [Expression error: Missing operand for > "Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia."]. Nat. Genet. 17 (2): 215–7. doi:. PMID 9326946.
- Jiralerspong S, Liu Y, Montermini L, et al. (1997). [Expression error: Missing operand for > "Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo."]. Neurobiol. Dis. 4 (2): 103–13. doi:. PMID 9331900.
- Koutnikova H, Campuzano V, Koenig M (1998). [Expression error: Missing operand for > "Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase."]. Hum. Mol. Genet. 7 (9): 1485–9. doi:. PMID 9700204.
- Zühlke C, Laccone F, Cossée M, et al. (1998). [Expression error: Missing operand for > "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. doi:. PMID 9737785.
- Bartolo C, Mendell JR, Prior TW (1999). [Expression error: Missing operand for > "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. doi:. PMID 9779809.
- Cossée M, Dürr A, Schmitt M, et al. (1999). [Expression error: Missing operand for > "Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes."]. Ann. Neurol. 45 (2): 200–6. doi:. PMID 9989622.
- Coppola G, De Michele G, Cavalcanti F, et al. (1999). [Expression error: Missing operand for > "Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study."]. J. Neurol. 246 (5): 353–7. doi:. PMID 10399865.
- Branda SS, Cavadini P, Adamec J, et al. (1999). [Expression error: Missing operand for > "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. doi:. PMID 10428860.
- Gordon DM, Shi Q, Dancis A, Pain D (1999). [Expression error: Missing operand for > "Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase."]. Hum. Mol. Genet. 8 (12): 2255–62. doi:. PMID 10545606.
- Forrest SM, Knight M, Delatycki MB, et al. (2000). [Expression error: Missing operand for > "The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene."]. Neurogenetics 1 (4): 253–7. doi:. PMID 10732799.
- Al-Mahdawi S, Pook M, Chamberlain S (2000). [Expression error: Missing operand for > "A novel missense mutation (L198R) in the Friedreich's ataxia gene."]. Hum. Mutat. 16 (1): 95. doi:. PMID 10874325.
- Dhe-Paganon S, Shigeta R, Chi YI, et al. (2000). [Expression error: Missing operand for > "Crystal structure of human frataxin."]. J. Biol. Chem. 275 (40): 30753–6. doi:. PMID 10900192.
External links
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