Frataxin (FXN)

FA; CyaY; FARR; FRDA; X25; Friedreich ataxia protein; Frataxin intermediate form; Frataxin, mitochondrial

SPN	U355
HGNC	3951
MGI	1096879
PubMed	16911956
RGD	1565754
UniProt	Q16595
Wiki	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. It has been proposed to act as either an iron Chaperone (protein) or an iron storage protein.Reduced expression of frataxin is the cause of Friedrich's ataxia (FRDA), a lethal neurodegenerative disease.
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.

Reference

"Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion."
Science 271:1423-1427(1996) [PubMed] [Europe PMC] [Abstract]

"DNA sequence and analysis of human chromosome 9."
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"The in vivo mitochondrial two-step maturation of human frataxin."
Hum. Mol. Genet. 17:3521-3531(2008) [PubMed] [Europe PMC] [Abstract]

"In vivo maturation of human frataxin."
Hum. Mol. Genet. 16:1534-1540(2007) [PubMed] [Europe PMC] [Abstract]

"Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin."
Hum. Mol. Genet. 19:1221-1229(2010) [PubMed] [Europe PMC] [Abstract]

"Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes."
Hum. Mol. Genet. 6:1771-1780(1997) [PubMed] [Europe PMC] [Abstract]

"Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin."
Nat. Genet. 16:345-351(1997) [PubMed] [Europe PMC] [Abstract]

"Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase."
Hum. Mol. Genet. 8:2255-2262(1999) [PubMed] [Europe PMC] [Abstract]

"Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase."
J. Biol. Chem. 274:22763-22769(1999) [PubMed] [Europe PMC] [Abstract]

"Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates."
J. Biol. Chem. 275:41469-41475(2000) [PubMed] [Europe PMC] [Abstract]

"Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia."
Hum. Mol. Genet. 11:217-227(2002) [PubMed] [Europe PMC] [Abstract]

"Structure of frataxin iron cores: an X-ray absorption spectroscopic study."
Biochemistry 42:5971-5976(2003) [PubMed] [Europe PMC] [Abstract]

"Iron-sulfur cluster biosynthesis. Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins."
J. Am. Chem. Soc. 125:6078-6084(2003) [PubMed] [Europe PMC] [Abstract]

"Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis."
J. Biol. Chem. 279:25943-25946(2004) [PubMed] [Europe PMC] [Abstract]

"Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity."
Science 305:242-245(2004) [PubMed] [Europe PMC] [Abstract]

"Assembly of human frataxin is a mechanism for detoxifying redox-active iron."
Biochemistry 44:537-545(2005) [PubMed] [Europe PMC] [Abstract]

"Frataxin interacts functionally with mitochondrial electron transport chain proteins."
Hum. Mol. Genet. 14:2091-2098(2005) [PubMed] [Europe PMC] [Abstract]

"Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells."
Hum. Mol. Genet. 14:3787-3799(2005) [PubMed] [Europe PMC] [Abstract]

"Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2."
J. Cell Sci. 118:3917-3924(2005) [PubMed] [Europe PMC] [Abstract]

"Supramolecular assemblies of human frataxin are formed via subunit-subunit interactions mediated by a non-conserved amino-terminal region."
J. Mol. Biol. 345:433-439(2005) [PubMed] [Europe PMC] [Abstract]

"A pool of extramitochondrial frataxin that promotes cell survival."
J. Biol. Chem. 281:16750-16756(2006) [PubMed] [Europe PMC] [Abstract]

"Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones."
Hum. Mol. Genet. 16:929-941(2007) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of human frataxin."
J. Biol. Chem. 275:30753-30756(2000) [PubMed] [Europe PMC] [Abstract]

"Towards a structural understanding of Friedreich's ataxia: the solution structure of frataxin."
Structure 8:695-707(2000) [PubMed] [Europe PMC] [Abstract]

"Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion."
Am. J. Hum. Genet. 60:1251-1256(1997) [PubMed] [Europe PMC] [Abstract]

"Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies."
Am. J. Med. Genet. 79:396-399(1998) [PubMed] [Europe PMC] [Abstract]

"The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene."
Neurogenetics 1:253-257(1998) [PubMed] [Europe PMC] [Abstract]

"Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes."
Ann. Neurol. 45:200-206(1999) [PubMed] [Europe PMC] [Abstract]

"A missense mutation (W155R) in an American patient with Friedreich's ataxia."
Hum. Mutat. 13:506-506(1999)

"A novel missense mutation (L198R) in the Friedreich's ataxia gene."
Hum. Mutat. 16:95-95(2000) [PubMed] [Europe PMC] [Abstract]

"The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia."
PLoS ONE 4:E6379-E6379(2009) [PubMed] [Europe PMC] [Abstract]