Gene: FXN (frataxin)  Homo sapiens

Symbol: FXN
Name: frataxin
Description: 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 results in multiple transcript variants. [provided by RefSeq, Jun 2009]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CyaY; FA; FARR; frataxin, mitochondrial; FRDA; friedreich ataxia protein; Friedreich ataxia protein; MGC57199; OTTHUMP00000021428; OTTHUMP00000215688; OTTHUMP00000215689; X25
Orthologs: Mus musculus : Fxn (frataxin)  MGI
Rattus norvegicus : Fxn (frataxin)
Related Pseudogenes: FRDAP  
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_1971,560,843 - 71,624,937+NCBI
Human Genome Assembly HuRef941,495,732 - 41,559,839+NCBI
Human Genome Assembly GRCh37971,650,479 - 71,715,094+NCBI
Human Genome Assembly Build 36970,840,164 - 70,878,772+NCBI
Human Cytogenetic Map9q21.11 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)


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

Genomics

Candidate Gene Status
Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
Nomenclature History
 
More on FXN
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 1604403
Created: 2007-04-28
Species: Homo sapiens
Last Modified: 2013-05-14
Status: ACTIVE