Sequence Detail

ID/Version

O35943 (UniProt | EBI)

Last sequence update: 1998-01-01
Last annotation update: 2024-07-24

Sequence description from provider

RecName: Full=Frataxin, mitochondrial {ECO:0000303|PubMed:9241270}; Short=Fxn; EC=1.16.3.1 {ECO:0000250|UniProtKB:Q16595};Contains: RecName: Full=Frataxin intermediate form;Contains: RecName: Full=Frataxin mature form;Contains: RecName:

Provider

SWISS-PROT

Sequence

Polypeptide 207 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Fxn	frataxin	74	103	3	23

Sequence references in MGI

J:42050 Koutnikova H, et al., Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet. 1997 Aug;16(4):345-51
J:129870 Martelli A, et al., Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues. Hum Mol Genet. 2007 Nov 15;16(22):2651-8
J:151779 Calmels N, et al., The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia. PLoS One. 2009;4(7):e6379
J:153234 Huang ML, et al., Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant. Proc Natl Acad Sci U S A. 2009 Sep 22;106(38):16381-6
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89
J:326895 Parent A, et al., Mammalian frataxin directly enhances sulfur transfer of NFS1 persulfide to both ISCU and free thiols. Nat Commun. 2015 Jan 19;6:5686
J:327042 Schmucker S, et al., Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex. PLoS One. 2011 Jan 26;6(1):e16199