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Gene: FXN (frataxin) Homo sapiens
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Symbol: FXN
Name: frataxin
Description: Exhibits 2 iron, 2 sulfur cluster binding activity; ferroxidase activity; and iron ion binding activity. Involved in several processes, including negative regulation of release of cytochrome c from mitochondria; positive regulation of aconitate hydratase activity; and positive regulation of succinate dehydrogenase activity. Localizes to the L-cysteine desulfurase complex and mitochondrion. Implicated in Friedreich ataxia; Friedreich ataxia 1; and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CyaY; FA; FARR; frataxin, mitochondrial; FRDA; Friedreich ataxia protein; MGC57199; X25
Orthologs:
Mus musculus (house mouse) : Fxn (frataxin)  MGI  Alliance
Rattus norvegicus (Norway rat) : Fxn (frataxin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Fxn (frataxin)
Pan paniscus (bonobo/pygmy chimpanzee) : FXN (frataxin)
Canis lupus familiaris (dog) : FXN (frataxin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Fxn (frataxin)
Sus scrofa (pig) : FXN (frataxin)
more info ...
Related Pseudogenes: FXNP1   FXNP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38969,035,752 - 69,079,076 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37971,650,479 - 71,715,094 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36970,840,164 - 70,878,772 (+)NCBINCBI36hg18NCBI36
Celera942,245,805 - 42,311,090 (+)NCBI
Cytogenetic Map9q21.11NCBI
HuRef941,495,732 - 41,559,839 (+)NCBIHuRef
CHM1_1971,797,667 - 71,861,767 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Candidate Gene Status
Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on FXN
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1604403
Created: 2007-04-28
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.