Frataxin

FXN
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1EKG, 1LY7, 3S4M, 3S5D, 3S5E, 3S5F, 3T3J, 3T3K, 3T3L, 3T3T, 3T3X
Identifiers
Aliases	FXN, CyaY, FA, FARR, FRDA, X25, frataxin
External IDs	OMIM: 606829; MGI: 1096879; HomoloGene: 47908; GeneCards: FXN; OMA:FXN - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	69,079,076 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	24,257,969 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; apex of heart; ; left ventricle; ; right adrenal gland; ; right adrenal cortex; ; muscle of thigh; ; left adrenal gland; ; left adrenal cortex; ; gastrocnemius muscle; ; right auricle of heart;
	Top expressed in
	bone marrow; ; myocardium of ventricle; ; cardiac muscles; ; proximal tubule; ; cardiac muscle tissue of left ventricle; ; right kidney; ; epithelium of small intestine; ; intestinal villus; ; quadriceps femoris muscle; ; Ileal epithelium;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; iron chaperone activity; 2 iron, 2 sulfur cluster binding; oxidoreductase activity; ferrous iron binding; metal ion binding; ferric iron binding; ferroxidase activity;
Cellular component	cytoplasm; cytosol; mitochondrial matrix; mitochondrion; L-cysteine desulfurase complex;
Biological process	regulation of ferrochelatase activity; positive regulation of cell population proliferation; response to iron ion; iron-sulfur cluster assembly; ion transport; positive regulation of aconitate hydratase activity; positive regulation of cell growth; cellular response to hydrogen peroxide; negative regulation of release of cytochrome c from mitochondria; positive regulation of succinate dehydrogenase activity; protein autoprocessing; negative regulation of apoptotic process; small molecule metabolic process; iron ion homeostasis; iron incorporation into metallo-sulfur cluster; cellular iron ion homeostasis; heme biosynthetic process; positive regulation of lyase activity; positive regulation of catalytic activity; oxidative phosphorylation; mitochondrion organization; adult walking behavior; aerobic respiration; embryo development ending in birth or egg hatching; proprioception; negative regulation of multicellular organism growth; negative regulation of organ growth;
	Sources:Amigo / QuickGO
Orthologs
	2395
	14297
	ENSG00000165060
	ENSMUSG00000059363
	Q16595
	O35943
	NM_181425; NM_000144; NM_001161706
	NM_008044
	NP_000135; NP_852090
	NP_032070
	Wikidata
View/Edit Human	View/Edit Mouse

Frataxin is a protein that in humans is encoded by the FXN gene.

It is located in the mitochondrion and Frataxin mRNA is mostly expressed in tissues with a high metabolic rate. The function of frataxin is not clear but it is involved in assembly of iron-sulfur clusters. It has been proposed to act as either an iron chaperone or an iron storage protein. Reduced expression of frataxin is the cause of Friedreich's ataxia.