FXN gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol FXN
Gene name frataxin
Chromosome 9
Chromosomal band q21.11
Imprinted Unknown
Genomic reference NC_000009.11
Transcript reference NM_000144.4, NM_001161706.1, NM_181425.2
Associated with diseases FRDA
Citation reference(s) -
Curators (0) -
Total number of public variants reported 2
Unique public DNA variants reported 2
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Date created November 12, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 3951
Entrez Gene 2395
PubMed articles FXN
OMIM - Gene 606829
OMIM - Diseases FRDA (FRDA1)
GeneCards FXN
GeneTests FXN

Active transcripts




NCBI ID     

NCBI Protein ID     

00000746 9 transcript variant 3 NM_001161706.1 NP_001155178.1 2
00000747 9 transcript variant 2 NM_181425.2 NP_852090.1 2
00000748 9 transcript variant 1 NM_000144.4 NP_000135.2 2

Copyright & disclaimer
; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium