Gene table of FXN : frataxin

Gene-disease associations table

Disease ID	Disease name	Source of annotation with FXN	OMIM link	Number of associated genes	genes
229300	FRIEDREICH ATAXIA 1	OMIM, HUMSAVAR	link to OMIM	1	FXN

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Mitochondrial protein import	R-HSA-1268020	7.28
Metabolism	R-HSA-1430728	2.34
Mitochondrial iron-sulfur cluster biogenesis	R-HSA-1362409	9.81
Metabolism of proteins	R-HSA-392499	3.41

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
oxidoreductase activity, oxidizing metal ions	GO:0016722	6.85
metal cluster binding	GO:0051540	5.55
oxidoreductase activity, oxidizing metal ions, oxygen as acceptor	GO:0016724	7.95
iron chaperone activity	GO:0034986	9.74
transition metal ion binding	GO:0046914	2.48
catalytic activity	GO:0003824	1.05
ferroxidase activity	GO:0004322	7.95
iron-sulfur cluster binding	GO:0051536	5.55
2 iron, 2 sulfur cluster binding	GO:0051537	6.56
ion binding	GO:0043167	1.36
ferrous iron binding	GO:0008198	6.65
ferric iron binding	GO:0008199	7.44
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
metallochaperone activity	GO:0016530	7.95
iron ion binding	GO:0005506	4.65
metal ion binding	GO:0046872	1.41
oxidoreductase activity	GO:0016491	3.12