FXN

Summary

FXN (frataxin, HGNC:3951) is a protein-coding gene on chromosome 9q21.11, encoding Frataxin, mitochondrial (Q16595). Functions as an activator of persulfide transfer to the scaffoding protein ISCU as component of the core iron-sulfur cluster (ISC) assembly complex and participates to the [2Fe-2S] cluster assembly. It is a selective cancer dependency (DepMap: 64.6% of cell lines).

This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 2395 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Friedreich ataxia (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 6
• Clinical variants (ClinVar): 151 total — 16 pathogenic, 9 likely-pathogenic
• Phenotypes (HPO): 78
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 64.6% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_000144

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3951
Approved symbol	FXN
Name	frataxin
Location	9q21.11
Locus type	gene with protein product
Status	Approved
Aliases	FA, FARR, X25, CyaY
Ensembl gene	ENSG00000165060
Ensembl biotype	protein_coding
OMIM	606829
Entrez	2395

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 nonsense_mediated_decay

ENST00000377270, ENST00000396366, ENST00000484259, ENST00000498653, ENST00000644653, ENST00000863456, ENST00000863457, ENST00000915363

RefSeq mRNA: 2 — MANE Select: NM_000144 NM_000144, NM_181425

CCDS: CCDS43834, CCDS6626

Canonical transcript exons

ENST00000484259 — 5 exons

Exon	Start	End
ENSE00001089858	69064938	69065035
ENSE00001883715	69046385	69046482
ENSE00001887404	69072612	69079076
ENSE00003823277	69035752	69035947
ENSE00003828441	69053140	69053260

Expression profiles

Bgee: expression breadth ubiquitous, 251 present calls, max score 90.16.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.2595 / max 127.6879, expressed in 1806 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
96810	20.2595	1806

Top tissues by expression

282 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	90.16	gold quality
apex of heart	UBERON:0002098	89.07	gold quality
heart left ventricle	UBERON:0002084	88.96	gold quality
cardiac ventricle	UBERON:0002082	88.60	gold quality
right adrenal gland	UBERON:0001233	88.53	gold quality
right adrenal gland cortex	UBERON:0035827	88.21	gold quality
hindlimb stylopod muscle	UBERON:0004252	88.17	gold quality
left adrenal gland	UBERON:0001234	87.95	gold quality
left adrenal gland cortex	UBERON:0035825	87.35	gold quality
gastrocnemius	UBERON:0001388	86.91	gold quality
right atrium auricular region	UBERON:0006631	86.90	gold quality
liver	UBERON:0002107	86.66	gold quality
mucosa of transverse colon	UBERON:0004991	86.64	gold quality
muscle of leg	UBERON:0001383	86.44	gold quality
adrenal cortex	UBERON:0001235	86.37	gold quality
adrenal gland	UBERON:0002369	86.16	gold quality
heart	UBERON:0000948	85.94	gold quality
cardiac atrium	UBERON:0002081	85.04	gold quality
body of pancreas	UBERON:0001150	84.75	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.49	gold quality
right ovary	UBERON:0002118	84.33	gold quality
left ovary	UBERON:0002119	84.14	gold quality
muscle organ	UBERON:0001630	84.13	gold quality
granulocyte	CL:0000094	83.95	gold quality
rectum	UBERON:0001052	83.27	gold quality
monocyte	CL:0000576	83.24	gold quality
leukocyte	CL:0000738	83.22	gold quality
smooth muscle tissue	UBERON:0001135	83.01	gold quality
mononuclear cell	CL:0000842	82.92	gold quality
pancreas	UBERON:0001264	82.29	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-6	yes	46.35
E-CURD-112	yes	8.96
E-ANND-3	yes	8.23

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTCF, DNMT1, EGR3, GLI3, MYC, PPARG, SRF, TFAP2A, TP53

miRNA regulators (miRDB)

181 targeting FXN, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-4731-5P	99.89	67.23	2537

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 64.6% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• trinucleotide repeat in friedreich ataxia (PMID:11810294)
• findings suggest that Friedreich ataxia results from decreased mitochondrial iron storage due to frataxin deficiency which may impair iron metabolism, promote oxidative damage and lead to progressive iron accumulation (PMID:11823441)
• Frataxin and cardiac troponin T gene mutations co-exist in a child with Friedreich ataxia and familial hypertrophic cardiomyopathy. (PMID:11857753)
• association of polymorphic trinucleotide repeat (GAA)n with diabetes mellitus type 2 in the Moscow population (PMID:11862710)
• frataxin protein is concluded to have a protective role for the nucleus as well as the mitochondria (PMID:12019217)
• molecular structure and iron-binding properties (PMID:12140189)
• Expansion of GAA repeats in the intron of this gene is involved in the autosomal recessive Friedreich ataxia. (PMID:12354077)
• The extended X-ray absorption fine structure (EXAFS) analysis agrees with previous electron microscopy data showing that frataxin cores are composed of very small ferrihydrite crystallites. (PMID:12755598)
• Frataxin functions as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins. (PMID:12785837)
• Friedreich ataxia is caused by expansion of a GAA triplet repeat (GAA-TR) in the FRDA gene. (PMID:14962663)
• analysis of frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis (PMID:15123683)
• We found one novel haplotype, ACCT, among the expanded alleles as well as among normal individuals, though at low frequency; this haplotype may be characteristic of Indian populations (PMID:15180699)
• mouse model of FRDA GAA repeat instability (PMID:15233994)
• frataxin is an iron chaperone protein that protects the aconitase [4Fe-4S]2+ cluster from disassembly and promotes enzyme reactivation (PMID:15247478)
• Transgenic mice show an altered response during hematopoietic differentiation, suggesting that frataxin may directly affect heme synthesis. (PMID:15304363)
• results demonstrate (i) that frataxin is a component of the human Fe/S cluster assembly machinery and (ii) that it plays a role in the maturation of both mitochondrial and cytosolic Fe/S proteins (PMID:15509595)
• The FRDA GAA repeat mutation in Friedreich ataxia is destabilized, frequently undergoing large contractions, during DNA replication. (PMID:15534367)
• frataxin is a modular protein that depends on self-assembly to accomplish its diverse functions (PMID:15581888)
• Analysis of stable monomeric and assembled forms of human frataxin reveals that the assembled protein has ferroxidase activity and detoxifies redox-active iron by sequestering it in a protein-protected compartment. (PMID:15641778)
• Data suggest that frataxin may be involved in the biosynthesis of iron-sulphur proteins such as IscU1 not only within the mitochondria, but also in the extramitochondrial compartment. (PMID:16091420)
• Deficiency of transgenic frataxin protein in Drosophila embryos results in diminished activities of numerous heme- and iron-sulfur-containing enzymes, loss of intracellular iron homeostasis and increased susceptibility to iron toxicity (PMID:16203742)
• an increase in oxidative metabolism induced by mitochondrial frataxin may inhibit cancer growth in mammals (PMID:16263703)
• Human mature frataxin is distributed between two distinct subcellular compartments; both mitochondrial and extramitochondrial forms can suppress apoptosis. (PMID:16608849)
• extramitochondrial frataxin can fully replace mitochondrial frataxin in promoting survival of FA cells (PMID:16608849)
• Frataxin, iron-sulfur clusters, heme and reactive oxygen species have roles in aging (PMID:16677095)
• A comparison the comformational properties of wild-type and mutant frataxins under physiological conditions and under adverse conditions are reported. (PMID:16787388)
• Data suggest that DNA sequence-specific polyamides alleviate transcription inhibition associated with long GAA.TTC repeats and reduced levels of frataxin in Friedreich’s ataxia.( (PMID:16857735)
• Earliest consequences of frataxin deficiency occur in ISC proteins of the cytoplasm, resulting in oxidative damage and stress and activation of the unfolded protein response which has been associated with neurological disease. (PMID:17098208)
• Progressive GAA expansions of FXN protein in dorsal root ganglia of Friedreich’s ataxia patients. (PMID:17262846)
• N-terminus of Mitochondrial processing peptidase-processed frataxin shows a unique high-affinity iron site and that this iron center appears to mediate a self-cleavage reaction (PMID:17285345)
• Frataxin interacts with ISD11 and multiple mitochondrial chaperones. (PMID:17331979)
• In living cells, the main form of mature frataxin is generated by a proteolytic cleavage between Lys80 and Ser81, yielding a 130 aa protein (frataxin 81-210). (PMID:17468497)
• analysis of frataxin and its maturation in human cells (PMID:17468497)
• Identification of a region that is important for maximal FXN gene expression and show that repeat expansion leads to changes in DNA methylation and chromatin organization in this region. (PMID:17478498)
• In heterozygosity for a null allele, a strong correlation was observed between the size of GAA expansion and the age at onset, supporting the hypothesis that the residual function of frataxin in patients’ cells derive exclusively from the expanded allele. (PMID:17703324)
• The FXN GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. (PMID:18045775)
• The effect of DNA double-strand break repair on instability of the (GAA*TTC)n sequence of the FXN gene. (PMID:18045804)
• Frataxin has some roles in controlling the balance between different mitochondrial iron pools that are partially in common with those of mitochondrial ferritin. (PMID:18160053)
• Friedrich’s disease presents a typical mutation, an expansion of trinucleotide GAA-repeats, in the FRDA gene. (PMID:18379460)
• Frataxin expression is regulated by iron; frataxin mRNA levels decrease significantly in multiple human cell lines treated with the iron chelator, desferal. (PMID:18424449)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fxn	ENSDARG00000074356
mus_musculus	Fxn	ENSMUSG00000059363
rattus_norvegicus	Fxn	ENSRNOG00000015213
drosophila_melanogaster	fh	FBGN0030092
caenorhabditis_elegans		WBGENE00001486

Protein

Protein identifiers

Frataxin, mitochondrial — Q16595 (reviewed: Q16595)

Alternative names: Friedreich ataxia protein

All UniProt accessions (4): A0A0S2Z3G4, A0A0S2Z3Q8, C9JAX1, Q16595

UniProt curated annotations — full annotation on UniProt →

Function. Functions as an activator of persulfide transfer to the scaffoding protein ISCU as component of the core iron-sulfur cluster (ISC) assembly complex and participates to the [2Fe-2S] cluster assembly. Accelerates sulfur transfer from NFS1 persulfide intermediate to ISCU and to small thiols such as L-cysteine and glutathione leading to persulfuration of these thiols and ultimately sulfide release. Binds ferrous ion and is released from FXN upon the addition of both L-cysteine and reduced FDX2 during [2Fe-2S] cluster assembly. The core iron-sulfur cluster (ISC) assembly complex is involved in the de novo synthesis of a [2Fe-2S] cluster, the first step of the mitochondrial iron-sulfur protein biogenesis. This process is initiated by the cysteine desulfurase complex (NFS1:LYRM4:NDUFAB1) that produces persulfide which is delivered on the scaffold protein ISCU in a FXN-dependent manner. Then this complex is stabilized by FDX2 which provides reducing equivalents to accomplish the [2Fe-2S] cluster assembly. Finally, the [2Fe-2S] cluster is transferred from ISCU to chaperone proteins, including HSCB, HSPA9 and GLRX5. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems. May function as an iron chaperone protein that protects the aconitase [4Fe-4S]2+ cluster from disassembly and promotes enzyme reactivation. May play a role as a high affinity iron binding partner for FECH that is capable of both delivering iron to ferrochelatase and mediating the terminal step in mitochondrial heme biosynthesis. Modulates the RNA-binding activity of ACO1. May be involved in the cytoplasmic iron-sulfur protein biogenesis. May contribute to oxidative stress resistance and overall cell survival.

Subunit / interactions. Component of the mitochondrial core iron-sulfur cluster (ISC) complex composed of NFS1, LYRM4, NDUFAB1, ISCU, FXN, and FDX2; this complex is a heterohexamer containing two copies of each monomer. Homodimer. Monomer (probable predominant form). Oligomer. Monomers and polymeric aggregates of >1 MDa have been isolated from mitochondria. A small fraction of heterologous overexpressed recombinant frataxin forms high-molecular weight aggregates that incorporate iron. Interacts with LYRM4. Interacts (via ferrous form) with ISCU; the interaction is possible when both are bound to the dimeric form of the cysteine desulfurase complex (NFS1:LYRM4) and the interaction enhances FXN interaction to the dimeric form of the cysteine desulfurase complex (NFS1:LYRM4). Interacts with FECH; one iron-bound FXN monomer seems to interact with a FECH homodimer. Interacts with SDHA and SDHB. Interacts with ACO2; the interaction is dependent on citrate. Interacts with HSPA9. Interacts with ACO1. Interacts with ISCU (cytoplasmic form).

Subcellular location. Mitochondrion Cytoplasm. Cytosol.

Tissue specificity. Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts.

Post-translational modifications. Processed in two steps by mitochondrial processing peptidase (MPP). MPP first cleaves the precursor to intermediate form and subsequently converts the intermediate to yield frataxin mature form (frataxin(81-210)) which is the predominant form. The additional forms, frataxin(56-210) and frataxin(78-210), seem to be produced when the normal maturation process is impaired; their physiological relevance is unsure.

Disease relevance. Friedreich ataxia (FRDA) [MIM:229300] Autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. The unusual migration profile of mature frataxin on SDS-PAGE due to its acidic N-terminus most likely contributed to conflicting reports for the N-terminus of the mature protein. Unlike prokaryotic and yeast frataxin homologs, which self-assemble at high iron concentrations, oligomerization of human frataxin is not induced by iron. The existence of a specialized mitochondrial ferritin in mammalia (FTMT) is suggesting that iron storage would be redundant function, at least in mammalian mitochondria. Not highly expressed and may be artifactual.

Similarity. Belongs to the frataxin family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q16595-1	1	yes
Q16595-2	2
Q16595-3	3

RefSeq proteins (2): NP_000135, NP_852090 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002908	Frataxin/CyaY	Family
IPR017789	Frataxin	Family
IPR020895	Frataxin_CS	Conserved_site
IPR036524	Frataxin/CyaY_sf	Homologous_superfamily

Pfam: PF01491

Catalyzed reactions (Rhea), 1 shown:

• 4 Fe(2+) + O2 + 4 H(+) = 4 Fe(3+) + 2 H2O (RHEA:11148)

UniProt features (45 total): mutagenesis site 12, strand 10, sequence variant 9, chain 5, sequence conflict 2, helix 2, turn 2, splice variant 2, transit peptide 1

Structure

Experimental structures (PDB)

19 structures.

PDB	Method	Resolution (Å)
3T3L	X-RAY DIFFRACTION	1.15
3T3K	X-RAY DIFFRACTION	1.24
3S4M	X-RAY DIFFRACTION	1.3
3S5E	X-RAY DIFFRACTION	1.31
3T3T	X-RAY DIFFRACTION	1.38
3S5D	X-RAY DIFFRACTION	1.5
3S5F	X-RAY DIFFRACTION	1.5
9HO5	X-RAY DIFFRACTION	1.5
3T3X	X-RAY DIFFRACTION	1.57
3T3J	X-RAY DIFFRACTION	1.7
9HO4	X-RAY DIFFRACTION	1.76
1EKG	X-RAY DIFFRACTION	1.8
9HO6	X-RAY DIFFRACTION	2
8PK8	ELECTRON MICROSCOPY	2.49
8RME	ELECTRON MICROSCOPY	2.49
8PK9	ELECTRON MICROSCOPY	2.58
6NZU	ELECTRON MICROSCOPY	3.2
5KZ5	ELECTRON MICROSCOPY	14.3
1LY7	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q16595-F1	75.93	0.53

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (12):

Position	Phenotype
39–40	abolishes cleavage to yield frataxin intermediate form and allows accumulation of frataxin(56-210) and frataxin(78-210).
53–54	no effect on processing of wild-type fxn.
78–79	abolishes cleavage to yield frataxin mature form and allows accumulation of frataxin(56-210) and frataxin(78-210).
79–80	abolishes cleavage to yield frataxin mature form and allows the accumulation of frataxin(56-210).
96	does not affect interaction with the core iron-sulfur cluster assembly complex. does not affect mitochondrial localizati
104	does not affect interaction with the core iron-sulfur cluster assembly complex. does not affect mitochondrial localizati
108	significantly reduces interaction with the core iron-sulfur cluster assembly complex. does not affect mitochondrial loca
111	significantly reduces interaction with the core iron-sulfur cluster assembly complex. does not affect mitochondrial loca
115	does not affect interaction with the core iron-sulfur cluster assembly complex. does not affect mitochondrial localizati
124	drasticly reduces interaction with the core iron-sulfur cluster assembly complex. does not affect mitochondrial localiza
146	does not affect interaction with the core iron-sulfur cluster assembly complex. does not affect mitochondrial localizati
173	loss of interaction with the core iron-sulfur cluster assembly complex. does not affect mitochondrial localization. does

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-1268020	Mitochondrial protein import
R-HSA-1362409	Mitochondrial iron-sulfur cluster biogenesis
R-HSA-9854311	Maturation of TCA enzymes and regulation of TCA cycle
R-HSA-9865881	Complex III assembly

MSigDB gene sets: 416 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_BEHAVIOR, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_TRANSITION_METAL_ION_TRANSPORT, GOBP_ADULT_BEHAVIOR, HOEGERKORP_CD44_TARGETS_TEMPORAL_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_INTRACELLULAR_IRON_ION_HOMEOSTASIS, GOBP_GROWTH, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, GOBP_POSITIVE_REGULATION_OF_LYASE_ACTIVITY, GOBP_TETRAPYRROLE_BIOSYNTHETIC_PROCESS, GOBP_ADULT_LOCOMOTORY_BEHAVIOR, GOBP_IRON_ION_TRANSPORT

GO Biological Process (29): oxidative phosphorylation (GO:0006119), heme biosynthetic process (GO:0006783), iron ion transport (GO:0006826), intracellular iron ion homeostasis (GO:0006879), adult walking behavior (GO:0007628), embryo development ending in birth or egg hatching (GO:0009792), response to iron ion (GO:0010039), iron-sulfur cluster assembly (GO:0016226), protein autoprocessing (GO:0016540), proprioception (GO:0019230), mitochondrial respiratory chain complex III assembly (GO:0034551), organ growth (GO:0035265), negative regulation of multicellular organism growth (GO:0040015), negative regulation of apoptotic process (GO:0043066), [2Fe-2S] cluster assembly (GO:0044571), [4Fe-4S] cluster assembly (GO:0044572), negative regulation of organ growth (GO:0046621), muscle cell cellular homeostasis (GO:0046716), positive regulation of lyase activity (GO:0051349), protein maturation (GO:0051604), cellular response to hydrogen peroxide (GO:0070301), negative regulation of release of cytochrome c from mitochondria (GO:0090201), monoatomic ion transport (GO:0006811), mitochondrion organization (GO:0007005), aerobic respiration (GO:0009060), iron incorporation into metallo-sulfur cluster (GO:0018283), intracellular monoatomic cation homeostasis (GO:0030003), regulation of growth (GO:0040008), inorganic ion homeostasis (GO:0098771)

GO Molecular Function (9): ferroxidase activity (GO:0004322), enzyme activator activity (GO:0008047), ferrous iron binding (GO:0008198), ferric iron binding (GO:0008199), iron chaperone activity (GO:0034986), 2 iron, 2 sulfur cluster binding (GO:0051537), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), metal ion binding (GO:0046872)

GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), cytosol (GO:0005829), mitochondrial [2Fe-2S] assembly complex (GO:0099128), iron-sulfur cluster assembly complex (GO:1990229), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Protein localization	1
Metabolism	1
Citric acid cycle (TCA cycle)	1
Respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
iron ion binding	3
cytoplasm	3
mitochondrion	2
negative regulation of developmental growth	2
negative regulation of multicellular organismal process	2
iron-sulfur cluster assembly	2
catalytic activity	2
cellular anatomical structure	2
aerobic respiration	1
proton motive force-driven ATP synthesis	1
porphyrin-containing compound biosynthetic process	1
heme metabolic process	1
pigment biosynthetic process	1
transition metal ion transport	1
intracellular monoatomic cation homeostasis	1
inorganic ion homeostasis	1
adult locomotory behavior	1
walking behavior	1
embryo development	1
response to metal ion	1
metallo-sulfur cluster assembly	1
protein processing	1
sensory perception	1
neuromuscular process controlling posture	1
respiratory chain complex III assembly	1
mitochondrial respiratory chain complex assembly	1
multicellular organismal process	1
developmental growth	1
multicellular organism growth	1
regulation of multicellular organism growth	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
organ growth	1
regulation of organ growth	1
cellular homeostasis	1
lyase activity	1
positive regulation of catalytic activity	1
gene expression	1
protein metabolic process	1

Protein interactions and networks

STRING

2172 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FXN	LYRM4	Q9HD34	999
FXN	NFS1	Q9Y697	998
FXN	ISCU	Q9H1K1	997
FXN	ACO2	Q99798	964
FXN	ACO1	P21399	963
FXN	FECH	P22830	935
FXN	HSPA9	P30036	901
FXN	SETX	Q7Z333	863
FXN	FTMT	Q8N4E7	848
FXN	APTX	Q7Z2E3	840
FXN	NFU1	Q9UMS0	834
FXN	FDX1	P10109	824
FXN	PIP5K1B	P78518	815
FXN	IREB2	P48200	813
FXN	ISCA2	Q86U28	787

IntAct

54 interactions, top by confidence:

A	B	Type	Score
FXN	DAPP1	psi-mi:“MI:0915”(physical association)	0.720
LYRM4	NDUFAB1	psi-mi:“MI:0914”(association)	0.640
ISCU	acpP	psi-mi:“MI:0915”(physical association)	0.570
GOLGA6L9	FXN	psi-mi:“MI:0915”(physical association)	0.560
FXN	CORO2A	psi-mi:“MI:0915”(physical association)	0.560
FXN	PIAS1	psi-mi:“MI:0915”(physical association)	0.560
FXN	CAPN10	psi-mi:“MI:0915”(physical association)	0.560
FXN	RASSF1	psi-mi:“MI:0915”(physical association)	0.560
FXN	RNF138	psi-mi:“MI:0915”(physical association)	0.560
FXN	SKIC8	psi-mi:“MI:0915”(physical association)	0.560
FXN	RNF183	psi-mi:“MI:0915”(physical association)	0.560
FXN	SAMD3	psi-mi:“MI:0915”(physical association)	0.560
FXN	ARL17	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (65): FXN (Affinity Capture-MS), RNF126 (Affinity Capture-Western), FXN (Affinity Capture-Western), FXN (Biochemical Activity), GLRX5 (Co-fractionation), FXN (Co-fractionation), FXN (Co-fractionation), FXN (Co-fractionation), FXN (Co-fractionation), FXN (Co-fractionation), CLIC4 (Co-fractionation), LACTB2 (Co-fractionation), FXN (Co-fractionation), FXN (Co-fractionation), FXN (Co-fractionation)

ESM2 similar proteins: A1L1P7, A6ZND9, A6ZSH0, B0BN56, B3LIY9, B3LPE4, B5VQB0, C5DKM2, D3ZYW7, F4I9Q5, O14320, O35658, O35796, O35943, O49196, P37841, P42797, P42844, P49727, P51132, P51133, P51135, P82928, Q01607, Q04907, Q05B87, Q07021, Q08230, Q09759, Q0IH40, Q16595, Q1JPN0, Q2KI49, Q3T0B6, Q5REH5, Q84WZ8, Q8HXX9, Q8N5N7, Q8VZE7, Q94JS0

Diamond homologs: A4G9P9, A7MQK4, A8G850, A8GN05, A8GRM5, B0BX32, B0YLW8, B5BIV3, B7VMD7, B8GQ85, C3PN35, C4K1X9, I7HD01, O35943, O74831, P40128, Q05B87, Q07540, Q16595, Q1RIC4, Q47JL4, Q4UM50, Q54C45, Q5PKM9, Q68X49, Q6CZG6, Q6LLN3, Q8HXX9, Q8SWI3, Q92IH7, Q9TY03, Q9W385, Q9ZDK5, Q9ZR07, A1AHX3, A4WG10, A6T3G3, A6TGJ0, A7ZU09, A8A6R1

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
SRC	“down-regulates quantity by destabilization”	FXN	phosphorylation
RNF126	“down-regulates quantity by destabilization”	FXN	ubiquitination
FXN	“form complex”	“Mitochondrial Fe-S Cluster Assembly Complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 28 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Maturation of TCA enzymes and regulation of TCA cycle	5	150.3×	9e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

151 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	16
Likely pathogenic	9
Uncertain significance	60
Likely benign	16
Benign	25

Top pathogenic / likely-pathogenic (25)

Variant ID	HGVS	Classification
1065563	NM_000144.5(FXN):c.165+1338AAG[180]	Pathogenic
1807205	NM_000144.5(FXN):c.169del (p.Ser57fs)	Pathogenic
3384335	NM_000144.5(FXN):c.2del (p.Met1fs)	Pathogenic
35514	NM_000144.5(FXN):c.371_376delinsTACACCTTGAGGACA (p.Asp124_Ser126delinsValHisLeuGluAspThr)	Pathogenic
3571552	NM_000144.5(FXN):c.165+5G>C	Pathogenic
3979	NM_000144.5(FXN):c.317T>G (p.Leu106Ter)	Pathogenic
3980	NM_000144.5(FXN):c.385-2A>G	Pathogenic
3981	NM_000144.5(FXN):c.460A>T (p.Ile154Phe)	Pathogenic
3983	NM_000144.5(FXN):c.3G>T (p.Met1Ile)	Pathogenic
3985	NM_000144.5(FXN):c.157del (p.Arg53fs)	Pathogenic
4072409	NC_000009.12:g.69037287_69037304GAA[120]	Pathogenic
4685500	NM_000144.5(FXN):c.211del (p.Gln71fs)	Pathogenic
549677	NM_000144.5(FXN):c.438C>G (p.Asn146Lys)	Pathogenic
561195	NG_008845.2:g.6725GAA[(200_900)]	Pathogenic
585889	NM_000144.5(FXN):c.285T>A (p.Tyr95Ter)	Pathogenic
585891	NM_000144.5(FXN):c.317T>C (p.Leu106Ser)	Pathogenic
1064596	NM_000144.5(FXN):c.166-5T>G	Likely pathogenic
3233904	NM_000144.5(FXN):c.483-12_483del	Likely pathogenic
3340519	NM_000144.5(FXN):c.482+1G>T	Likely pathogenic
3902437	NM_000144.5(FXN):c.410G>T (p.Gly137Val)	Likely pathogenic
3984	NM_000144.5(FXN):c.517T>G (p.Trp173Gly)	Likely pathogenic
447362	NM_000144.5(FXN):c.385-1G>C	Likely pathogenic
447363	NM_000144.5(FXN):c.483-2A>G	Likely pathogenic
585887	NM_000144.5(FXN):c.165+2_165+3insTT	Likely pathogenic
804823	NM_000144.5(FXN):c.498T>G (p.Tyr166Ter)	Likely pathogenic

SpliceAI

559 predictions. Top by Δscore:

Variant	Effect	Δscore
9:69035943:GCGCA:G	donor_gain	1.0000
9:69035945:GCA:G	donor_gain	1.0000
9:69035948:G:GG	donor_gain	1.0000
9:69046481:GG:G	donor_gain	1.0000
9:69046482:GG:G	donor_gain	1.0000
9:69053138:A:AG	acceptor_gain	1.0000
9:69053139:G:GT	acceptor_gain	1.0000
9:69053139:GC:G	acceptor_gain	1.0000
9:69053139:GCT:G	acceptor_gain	1.0000
9:69053139:GCTCT:G	acceptor_gain	1.0000
9:69053240:G:GT	donor_gain	1.0000
9:69064928:A:AG	acceptor_gain	1.0000
9:69064936:AGAGT:A	acceptor_gain	1.0000
9:69064937:GA:G	acceptor_gain	1.0000
9:69064937:GAGTG:G	acceptor_gain	1.0000
9:69035944:CGCA:C	donor_gain	0.9900
9:69035945:GCAG:G	donor_gain	0.9900
9:69035946:CA:C	donor_gain	0.9900
9:69035946:CAG:C	donor_loss	0.9900
9:69035947:AGT:A	donor_loss	0.9900
9:69035949:T:A	donor_loss	0.9900
9:69035950:AAGTA:A	donor_loss	0.9900
9:69035951:AGTA:A	donor_loss	0.9900
9:69046379:TTTCA:T	acceptor_loss	0.9900
9:69046380:TTCA:T	acceptor_loss	0.9900
9:69046382:CAGAG:C	acceptor_loss	0.9900
9:69046383:A:AG	acceptor_gain	0.9900
9:69046383:A:G	acceptor_loss	0.9900
9:69046384:G:GG	acceptor_gain	0.9900
9:69046384:GA:G	acceptor_gain	0.9900

AlphaMissense

1339 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:69065016:T:A	W155R	0.998
9:69065016:T:C	W155R	0.998
9:69065018:G:C	W155C	0.997
9:69065018:G:T	W155C	0.997
9:69064994:G:C	K147N	0.996
9:69064994:G:T	K147N	0.996
9:69065014:T:C	I154T	0.996
9:69065020:T:C	L156P	0.996
9:69072646:T:A	W173R	0.996
9:69072646:T:C	W173R	0.996
9:69064987:T:A	I145N	0.995
9:69064991:C:A	N146K	0.995
9:69064991:C:G	N146K	0.995
9:69072648:G:C	W173C	0.995
9:69072648:G:T	W173C	0.995
9:69065012:A:C	Q153H	0.994
9:69065012:A:T	Q153H	0.994
9:69065014:T:G	I154S	0.994
9:69072625:T:G	Y166D	0.994
9:69064948:T:C	L132S	0.993
9:69064997:G:C	Q148H	0.993
9:69064997:G:T	Q148H	0.993
9:69065011:A:C	Q153P	0.993
9:69072622:C:A	R165S	0.993
9:69064980:T:G	Y143D	0.992
9:69072614:G:A	G162E	0.992
9:69064987:T:G	I145S	0.991
9:69064989:A:G	N146D	0.991
9:69064984:T:A	V144E	0.990
9:69065014:T:A	I154N	0.990

dbSNP variants (sampled 300 via entrez): RS1000003747 (9:69066438 A>C,G), RS1000026936 (9:69063351 A>C), RS1000059908 (9:69063687 T>A,G), RS1000216546 (9:69041046 T>A,G), RS1000217473 (9:69058980 A>G), RS1000301834 (9:69057318 C>T), RS1000317313 (9:69034143 CT>C), RS1000389384 (9:69051090 T>TTTTTA), RS1000390367 (9:69047303 G>A), RS1000481324 (9:69069849 A>C,G), RS1000517863 (9:69042406 T>C,G), RS1000723664 (9:69052709 A>AT), RS1000798135 (9:69048903 T>C), RS1000934505 (9:69066090 A>G), RS1000941987 (9:69045971 A>G)

Disease associations

OMIM: gene MIM:606829 | disease phenotypes: MIM:229300

GenCC curated gene-disease

Disease	Classification	Inheritance
Friedreich ataxia 1	Definitive	Autosomal recessive
Friedreich ataxia	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Friedreich ataxia	Definitive	AR

Mondo (5): Friedreich ataxia 1 (MONDO:0100340), hypertrophic cardiomyopathy (MONDO:0005045), Friedreich ataxia (MONDO:0100339), Friedreich ataxia with retained reflexes (MONDO:0800301), (MONDO:0009245)

Orphanet (2): Friedreich ataxia (Orphanet:95), Rare hypertrophic cardiomyopathy (Orphanet:217569)

HPO phenotypes

78 total (30 of 78 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000012	Urinary urgency
HP:0000365	Hearing impairment
HP:0000505	Visual impairment
HP:0000570	Abnormal saccadic eye movements
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000649	Abnormality of visual evoked potentials
HP:0000716	Depression
HP:0000739	Anxiety
HP:0000763	Sensory neuropathy
HP:0000819	Diabetes mellitus
HP:0001063	Acrocyanosis
HP:0001123	Visual field defect
HP:0001251	Ataxia
HP:0001257	Spasticity
HP:0001260	Dysarthria
HP:0001272	Cerebellar atrophy
HP:0001310	Dysmetria
HP:0001315	Reduced tendon reflexes
HP:0001324	Muscle weakness
HP:0001332	Dystonia
HP:0001618	Dysphonia
HP:0001626	Abnormality of the cardiovascular system
HP:0001635	Congestive heart failure
HP:0001638	Cardiomyopathy
HP:0001639	Hypertrophic cardiomyopathy
HP:0001691	Muscular subvalvular aortic stenosis
HP:0001760	Abnormal foot morphology
HP:0001761	Pes cavus

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST002719_8	Seasonality	9.000000e-06
GCST003542_111	Night sleep phenotypes	1.000000e-06
GCST003997_29	Myopia	7.000000e-21
GCST005337_26	Headache	2.000000e-08
GCST007930_140	Medication use (agents acting on the renin-angiotensin system)	5.000000e-11
GCST010002_320	Refractive error	3.000000e-39

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006876	seasonality measurement
EFO:0009931	Agents acting on the renin-angiotensin system use measurement

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D002312	Cardiomyopathy, Hypertrophic	C14.280.238.100; C14.280.484.048.750.070.160
D005621	Friedreich Ataxia	C10.228.140.252.700.150; C10.228.854.787.200; C10.574.500.825.200; C16.320.400.780.200; C18.452.660.300
C565561	Friedreich Ataxia 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2321640 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

57 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases expression, decreases expression	3
Iron	increases abundance, increases metabolic processing, affects binding	3
Acetaminophen	affects cotreatment, decreases expression	2
Cisplatin	increases expression	2
Tretinoin	affects cotreatment, increases expression, decreases expression	2
Valproic Acid	affects expression, increases expression	2
GSK-J4	decreases expression	1
RG2833	increases expression	1
bisphenol F	increases expression, affects cotreatment	1
A-196 compound	increases expression, increases response to substance	1
alpha phellandrene	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
trichostatin A	affects expression	1
beta-lapachone	decreases expression	1
arsenite	affects binding, increases reaction	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
4-hydroxy-2-nonenal	affects expression, affects reaction	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
benzyloxycarbonylvalyl-alanyl-aspartyl fluoromethyl ketone	affects reaction, affects response to substance	1
2-palmitoylglycerol	increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
abrine	decreases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	decreases expression, increases response to substance	1
bisphenol S	affects cotreatment, increases expression	1
ferrostatin-1	affects reaction, affects response to substance	1
Resveratrol	increases expression	1
Deferiprone	increases expression	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2329912	Binding	Binding affinity to recombinant His-tagged frataxin (unknown origin) at 1 uM at 37 degC by UF-LC/MS analysis relative to control	Discovery of a novel small molecule inhibitor targeting the frataxin/ubiquitin interaction via structure-based virtual screening and bioassays. — J Med Chem

Cellosaurus cell lines

102 cell lines: 51 transformed cell line, 35 finite cell line, 16 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_0U91	GM14519	Transformed cell line	Female
CVCL_0U92	GM15847	Transformed cell line	Female
CVCL_0U93	GM15848	Transformed cell line	Male
CVCL_0U94	GM15849	Transformed cell line	Male
CVCL_0U95	GM16201	Transformed cell line	Female
CVCL_0U97	GM16204	Transformed cell line	Female
CVCL_0U98	GM16205	Transformed cell line	Male
CVCL_0U99	GM16218	Transformed cell line	Male
CVCL_0V00	GM16219	Transformed cell line	Female
CVCL_0V01	GM16222	Transformed cell line	Female

Clinical trials (associated diseases)

328 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT01716221	PHASE4	COMPLETED	An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia
NCT04801303	PHASE4	COMPLETED	Evaluation of the Effects of Calcitriol’s in the Neurological Symptoms of Friedreich’s Ataxia Patients
NCT00879060	PHASE4	COMPLETED	Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy
NCT01721967	PHASE4	COMPLETED	Ranolazine for the Treatment of Chest Pain in HCM Patients
NCT02948998	PHASE4	UNKNOWN	Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy
NCT03249272	PHASE4	TERMINATED	Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve
NCT04133532	PHASE4	COMPLETED	Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy
NCT06401343	PHASE4	RECRUITING	Use of SGLT2i in noHCM With HFpEF
NCT07103655	PHASE4	NOT_YET_RECRUITING	The Therapeutic Value of Mavacamten in Hypertrophic Cardiomyopathy With Mid-to-Apical Left Ventricular Obstruction
NCT07600177	PHASE4	RECRUITING	Mavacamten to Aficamten Transition in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT05515536	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Assess the Safety and Efficacy of Vatiquinone in Participants With Friedreich Ataxia
NCT06953583	PHASE3	RECRUITING	A Study to Learn More About the Effects and Long-Term Safety of BIIB141 (Omaveloxolone) in Participants With Friedreich’s Ataxia Aged 2 to 15 Years Old (BRAVE)
NCT00537680	PHASE3	COMPLETED	Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich’s Ataxia
NCT00697073	PHASE3	COMPLETED	Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich’s Ataxia Patients
NCT00811681	PHASE3	COMPLETED	Effect of Pioglitazone Administered to Patients With Friedreich’s Ataxia: Proof of Concept
NCT00905268	PHASE3	COMPLETED	A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich’s Ataxia (FRDA) Patients
NCT01303406	PHASE3	COMPLETED	Patient Reported Outcomes in Friedreich’s Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI)
NCT02415127	PHASE3	COMPLETED	Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich’s Ataxia
NCT02593773	PHASE3	COMPLETED	Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich’s Ataxia Study
NCT02797080	PHASE3	COMPLETED	Long-Term Safety Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich’s Ataxia
NCT04102501	PHASE3	COMPLETED	A Study to Assess Efficacy, Long Term Safety and Tolerability of RT001 in Subjects With Friedreich’s Ataxia
NCT00317967	PHASE3	COMPLETED	Study to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart
NCT00698074	PHASE3	UNKNOWN	Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy
NCT00821353	PHASE3	COMPLETED	Antiarrhythmic Therapy Versus Catheter Ablation for Atrial Fibrillation in Hypertrophic Cardiomyopathy
NCT02431221	PHASE3	WITHDRAWN	Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure
NCT03470545	PHASE3	COMPLETED	Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT05174416	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Mavacamten in Chinese Adults With Symptomatic Obstructive HCM
NCT05182658	PHASE3	ACTIVE_NOT_RECRUITING	Empagliflozin in Hypertrophic Cardiomyopathy
NCT05186818	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Placebo in Adults With Symptomatic oHCM
NCT05767346	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Metoprolol Succinate in Adults With Symptomatic oHCM
NCT06116968	PHASE3	COMPLETED	An Open-Label Study of Aficamten for Chinese Patients With Symptomatic oHCM
NCT06873828	PHASE3	NOT_YET_RECRUITING	Evaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter MonitoringEvaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter Monitoring
NCT07021976	PHASE3	RECRUITING	A Phase III Trial of HRS-1893 in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT07023341	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Learn More About How Well Aficamten Works in Japanese Participants With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT07202897	PHASE3	NOT_YET_RECRUITING	LA-HCM Study : Rivaroxaban for Antithrombotic Prevention in Hypertrophic Cardiomyopathy Patients With Abnormal Left Atrial Strain.
NCT00229632	PHASE2	COMPLETED	Idebenone to Treat Friedreich’s Ataxia
NCT00824512	PHASE2	COMPLETED	Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia
NCT01493973	PHASE2	COMPLETED	Efficacy Study of Epoetin Alfa in Friedreich Ataxia
NCT01965327	PHASE2	COMPLETED	Interferon Gamma-1b in Friedreich Ataxia (FRDA)
NCT02035020	PHASE2	COMPLETED	A Phase IIa Trial to Test Safety and Efficacy Interferon Gamma Treatment in Elevating Frataxin Levels in FRDA Patients