FDX2

Summary

FDX2 (ferredoxin 2, HGNC:30546) is a protein-coding gene on chromosome 19p13.2, encoding Ferredoxin-2, mitochondrial (Q6P4F2). Electron donor, of the core iron-sulfur cluster (ISC) assembly complex, that acts to reduce the persulfide into sulfide during [2Fe-2S] clusters assembly on the scaffolding protein ISCU. It is a selective cancer dependency (DepMap: 66.9% of cell lines).

This gene encodes a member of the ferredoxin family. The encoded protein contains a 2Fe-2S ferredoxin-type domain and is essential for heme A and Fe/S protein biosynthesis. Mutation in FDX1L gene is associated with mitochondrial muscle myopathy.

Source: NCBI Gene 112812 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 145 total — 1 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 40
• Cancer dependency (DepMap): dependent in 66.9% of screened cell lines
• MANE Select transcript: NM_001397406

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30546
Approved symbol	FDX2
Name	ferredoxin 2
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC19604
Ensembl gene	ENSG00000267673
Ensembl biotype	protein_coding
OMIM	614585
Entrez	112812

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 retained_intron, 4 protein_coding

ENST00000343376, ENST00000393708, ENST00000453681, ENST00000460631, ENST00000486454, ENST00000492239, ENST00000494368, ENST00000706663

RefSeq mRNA: 1 — MANE Select: NM_001397406 NM_001397406

CCDS: CCDS32905

Canonical transcript exons

ENST00000393708 — 5 exons

Exon	Start	End
ENSE00003461639	10315705	10315759
ENSE00003595551	10315386	10315492
ENSE00003650166	10310853	10310940
ENSE00003996519	10310045	10310642
ENSE00003996520	10315852	10316015

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 96.49.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.4295 / max 185.8204, expressed in 1788 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
179108	13.9334	1785
179107	0.2593	91
179106	0.2368	119

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
prefrontal cortex	UBERON:0000451	96.49	gold quality
frontal cortex	UBERON:0001870	95.79	gold quality
anterior cingulate cortex	UBERON:0009835	95.48	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.25	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.23	gold quality
cerebral cortex	UBERON:0000956	95.07	gold quality
right frontal lobe	UBERON:0002810	95.00	gold quality
superior frontal gyrus	UBERON:0002661	94.73	gold quality
nucleus accumbens	UBERON:0001882	94.42	gold quality
hypothalamus	UBERON:0001898	94.35	gold quality
substantia nigra	UBERON:0002038	94.16	gold quality
temporal lobe	UBERON:0001871	94.09	gold quality
Ammon’s horn	UBERON:0001954	94.09	gold quality
amygdala	UBERON:0001876	94.06	gold quality
putamen	UBERON:0001874	93.68	gold quality
primary visual cortex	UBERON:0002436	93.38	gold quality
caudate nucleus	UBERON:0001873	93.30	gold quality
brain	UBERON:0000955	92.76	gold quality
apex of heart	UBERON:0002098	91.31	gold quality
adult mammalian kidney	UBERON:0000082	89.87	gold quality
pituitary gland	UBERON:0000007	89.77	gold quality
adenohypophysis	UBERON:0002196	89.43	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	89.33	gold quality
right adrenal gland	UBERON:0001233	89.11	gold quality
right adrenal gland cortex	UBERON:0035827	88.81	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.53	gold quality
right lobe of thyroid gland	UBERON:0001119	88.50	gold quality
left adrenal gland	UBERON:0001234	88.49	gold quality
left adrenal gland cortex	UBERON:0035825	88.35	gold quality
mucosa of transverse colon	UBERON:0004991	88.34	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-13	yes	405.26
E-ANND-3	yes	3.23

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 66.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 7)

• unique conformational change is observed when holo hFd2 is warmed to physiological temperatures, or higher (PMID:23208207)
• Fdx2 is the second component of the Fe-S cluster biogenesis machinery, the first being IscU that is associated with isolated mitochondrial myopathy. (PMID:24281368)
• FDX1 and FDX2 both bind NFS1 and donate electrons for iron-sulfur cluster biosynthesis. (PMID:28001042)
• The phenotype was mapped to the same homozygous missense mutation in FDX2 (c.431C > T, p.P144L). The deleterious effect of the mutation was validated by real-time reverse transcription polymerase chain reaction and western blot analysis, which demonstrated normal expression of FDX2 mRNA but severely reduced expression of FDX2 protein in muscle tissue. (PMID:30010796)
• By binding zinc-free ISCU, iron drives persulfide uptake from NFS1 and allows persulfide reduction into sulfide by FDX2, thereby coordinating sulfide production with its availability to generate Fe-S clusters. FXN stimulates the whole process by accelerating persulfide transfer. This reconstitution recapitulates physiological conditions which provides a model for Fe-S cluster biosynthesis on the scaffold protein ISCU. (PMID:31395877)
• Functional spectrum and specificity of mitochondrial ferredoxins FDX1 and FDX2. (PMID:36280795)
• Unraveling the molecular determinants of a rare human mitochondrial disorder caused by the P144L mutation of FDX2. (PMID:39467201)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fdx2	ENSDARG00000052190
mus_musculus	Fdx2	ENSMUSG00000079677
rattus_norvegicus	Fdx2	ENSRNOG00000023020
drosophila_melanogaster	Fdx1	FBGN0011769
caenorhabditis_elegans		WBGENE00013532

Paralogs (1): FDX1 (ENSG00000137714)

Protein

Protein identifiers

Ferredoxin-2, mitochondrial — Q6P4F2 (reviewed: Q6P4F2)

Alternative names: Adrenodoxin-like protein, Ferredoxin-1-like protein

All UniProt accessions (3): A0A0A0MTS8, A0A9L9PXQ6, Q6P4F2

UniProt curated annotations — full annotation on UniProt →

Function. Electron donor, of the core iron-sulfur cluster (ISC) assembly complex, that acts to reduce the persulfide into sulfide during [2Fe-2S] clusters assembly on the scaffolding protein ISCU. 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. Essential for coenzyme Q biosynthesis: together with FDXR, transfers the electrons required for the hydroxylation reaction performed by COQ6.

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. Form a heterodimer complex with NFS1. Interacts (in both their reduced and oxidized states) with the cysteine desulfurase complex; this interaction stimulates cysteine desulfurase activity, and serves as a reductant for Fe-S cluster assembly.

Subcellular location. Mitochondrion. Mitochondrion matrix.

Tissue specificity. Widely expressed, with highest levels in testis, kidney and brain (at protein level). Expressed in muscle (at protein level). Expressed in fibroblasts (at protein level).

Disease relevance. Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MEOAL) [MIM:251900] An autosomal recessive neuromuscular disorder characterized by childhood onset of recurrent episodes of proximal weakness and myalgia often precipitated by exercise, infections or low temperature. Additional features are optic atrophy, axonal polyneuropathy, and reversible or partially reversible leukoencephalopathy. The disease is caused by variants affecting the gene represented in this entry.

Cofactor. Binds 1 [2Fe-2S] cluster.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the adrenodoxin/putidaredoxin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6P4F2-1	1	yes
Q6P4F2-2	2

RefSeq proteins (1): NP_001384335* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001041	2Fe-2S_ferredoxin-type	Domain
IPR001055	Adrenodoxin-like	Family
IPR012675	Beta-grasp_dom_sf	Homologous_superfamily
IPR018298	Adrenodoxin_Fe-S_BS	Binding_site
IPR036010	2Fe-2S_ferredoxin-like_sf	Homologous_superfamily

Pfam: PF00111

UniProt features (23 total): strand 7, helix 5, binding site 4, transit peptide 1, chain 1, sequence conflict 1, domain 1, region of interest 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
2Y5C	X-RAY DIFFRACTION	1.7
8RMC	ELECTRON MICROSCOPY	2.26
8RMF	ELECTRON MICROSCOPY	2.33
8RMG	ELECTRON MICROSCOPY	2.46
8RMD	ELECTRON MICROSCOPY	2.52

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6P4F2-F1	77.49	0.52

Functional residue map

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

Ligand- & substrate-binding residues (4): 105; 111; 114; 151

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-1362409	Mitochondrial iron-sulfur cluster biogenesis
R-HSA-196108	Pregnenolone biosynthesis
R-HSA-211976	Endogenous sterols
R-HSA-2395516	Electron transport from NADPH to Ferredoxin
R-HSA-5579026	Defective CYP11A1 causes AICSR

MSigDB gene sets: 152 (showing top): REACTOME_BIOLOGICAL_OXIDATIONS, WWTAAGGC_UNKNOWN, REACTOME_ENDOGENOUS_STEROLS, GOBP_KETONE_METABOLIC_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_ELECTRON_TRANSPORT_CHAIN, OCT1_06, GOBP_KETONE_BIOSYNTHETIC_PROCESS, AACTTT_UNKNOWN, CCCAGAG_MIR326, MODULE_95, NKX3A_01, GOBP_QUINONE_METABOLIC_PROCESS, GOCC_MITOCHONDRIAL_MATRIX

GO Biological Process (6): ubiquinone biosynthetic process (GO:0006744), iron-sulfur cluster assembly (GO:0016226), electron transport chain (GO:0022900), [2Fe-2S] cluster assembly (GO:0044571), [4Fe-4S] cluster assembly (GO:0044572), P450-containing electron transport chain (GO:0140647)

GO Molecular Function (5): electron transfer activity (GO:0009055), metal ion binding (GO:0046872), 2 iron, 2 sulfur cluster binding (GO:0051537), protein binding (GO:0005515), iron-sulfur cluster binding (GO:0051536)

GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), iron-sulfur cluster assembly complex (GO:1990229)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Metabolism	1
Metabolism of steroid hormones	1
Cytochrome P450 - arranged by substrate type	1
Mitochondrial iron-sulfur cluster biogenesis	1
Metabolic disorders of biological oxidation enzymes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
iron-sulfur cluster assembly	2
cytoplasm	2
ubiquinone metabolic process	1
quinone biosynthetic process	1
metallo-sulfur cluster assembly	1
generation of precursor metabolites and energy	1
electron transport chain	1
molecular_function	1
cation binding	1
iron-sulfur cluster binding	1
binding	1
metal cluster binding	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1
protein-containing complex	1

Protein interactions and networks

STRING

2364 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FDX2	LYRM4	Q9HD34	888
FDX2	ISCU	Q9H1K1	876
FDX2	FDXR	P22570	871
FDX2	NFU1	Q9UMS0	815
FDX2	NFS1	Q9Y697	810
FDX2	IBA57	Q5T440	806
FDX2	ISCA2	Q86U28	798
FDX2	ISCA1	Q9BUE6	793
FDX2	FXN	Q16595	743
FDX2	BOLA3	Q53S33	737
FDX2	GLRX5	Q86SX6	712
FDX2	LIAS	O43766	678
FDX2	BOLA1	Q9Y3E2	666
FDX2	ABCB7	O75027	664
FDX2	HSCB	Q8IWL3	644

IntAct

10 interactions, top by confidence:

A	B	Type	Score
LHX4	FDX2	psi-mi:“MI:0915”(physical association)	0.560
FDX2	LHX4	psi-mi:“MI:0915”(physical association)	0.560
MEOX2	FDX2	psi-mi:“MI:0915”(physical association)	0.560
GFPT2	GFPT1	psi-mi:“MI:0914”(association)	0.350
C6orf62	MAP2K7	psi-mi:“MI:0914”(association)	0.350
FDX2	MEOX2	psi-mi:“MI:0915”(physical association)	0.000

ESM2 similar proteins: A2YQD9, O04090, O04166, O04683, O80429, P00220, P00221, P00228, P00257, P00258, P02902, P04669, P07088, P07839, P08817, P09911, P10109, P10352, P13216, P15543, P16972, P17650, P21149, P23235, P24483, P25701, P25702, P27787, P27788, P27789, P37193, P46656, P83523, P83527, P83582, P94044, Q05B51, Q08C57, Q0J8M2, Q12184

Diamond homologs: D5IGG4, G2IN77, P00257, P00258, P00259, P0A9R4, P0A9R5, P0A9R6, P10109, P13216, P24483, P29330, P33007, P37098, P37193, P43493, P46656, P80306, Q05B51, Q08C57, Q12184, Q1RJ69, Q4UKL2, Q51383, Q5FWQ0, Q5S3I4, Q6P4F2, Q8SZA8, Q92J08, Q9AKC4, Q9AKH1, Q9AKM6, Q9CPW2, Q9ZDW6, W8X5L3, X5CFH4, X5CWH9, Q8S904, Q8SV19, Q9M0V0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	2
Uncertain significance	42
Likely benign	72
Benign	22

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
3361041	NM_001397406.1(FDX2):c.196del (p.Asp66fs)	Pathogenic
623644	NM_001397406.1(FDX2):c.422C>T (p.Pro141Leu)	Likely pathogenic
985120	NM_001397406.1(FDX2):c.3G>T (p.Met1Ile)	Likely pathogenic

SpliceAI

733 predictions. Top by Δscore:

Variant	Effect	Δscore
19:10310524:T:TA	donor_gain	1.0000
19:10310849:TCA:T	donor_loss	1.0000
19:10310851:A:AG	donor_loss	1.0000
19:10310852:C:T	donor_loss	1.0000
19:10310852:CCT:C	donor_gain	1.0000
19:10310938:CCC:C	acceptor_gain	1.0000
19:10310939:CC:C	acceptor_gain	1.0000
19:10310939:CCC:C	acceptor_gain	1.0000
19:10310940:CC:C	acceptor_gain	1.0000
19:10310941:C:CC	acceptor_gain	1.0000
19:10310497:TGGGG:T	donor_gain	0.9900
19:10310519:G:C	donor_gain	0.9900
19:10310638:CTTCC:C	acceptor_gain	0.9900
19:10310641:CC:C	acceptor_gain	0.9900
19:10310642:CC:C	acceptor_gain	0.9900
19:10310643:C:CC	acceptor_gain	0.9900
19:10310643:CT:C	acceptor_loss	0.9900
19:10310644:T:G	acceptor_loss	0.9900
19:10310648:G:C	acceptor_gain	0.9900
19:10310648:G:GC	acceptor_gain	0.9900
19:10310851:A:AC	donor_gain	0.9900
19:10310852:C:CC	donor_gain	0.9900
19:10310852:CCTCT:C	donor_gain	0.9900
19:10310936:GGCCC:G	acceptor_gain	0.9900
19:10310937:GCCC:G	acceptor_gain	0.9900
19:10310938:CCCC:C	acceptor_gain	0.9900
19:10310941:C:CA	acceptor_loss	0.9900
19:10310941:C:T	acceptor_gain	0.9900
19:10310941:CT:C	acceptor_loss	0.9900
19:10310942:T:A	acceptor_loss	0.9900

AlphaMissense

1193 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:10310522:G:C	N175K	0.997
19:10310522:G:T	N175K	0.997
19:10310547:A:G	F167S	0.997
19:10310586:C:G	C154S	0.997
19:10310587:A:G	C154R	0.997
19:10310587:A:T	C154S	0.997
19:10310907:C:T	C117Y	0.997
19:10310908:A:G	C117R	0.997
19:10310916:C:T	C114Y	0.997
19:10310917:A:G	C114R	0.997
19:10310934:C:T	C108Y	0.997
19:10310905:G:C	H118D	0.996
19:10310916:C:G	C114S	0.996
19:10310917:A:T	C114S	0.996
19:10310589:C:T	G153D	0.995
19:10310934:C:G	C108S	0.995
19:10310935:A:G	C108R	0.995
19:10310935:A:T	C108S	0.995
19:10315412:G:T	A97D	0.995
19:10310586:C:T	C154Y	0.994
19:10310590:C:G	G153R	0.994
19:10310599:A:G	S150P	0.994
19:10310915:G:C	C114W	0.994
19:10310628:A:G	L140P	0.993
19:10310907:C:A	C117F	0.993
19:10315424:A:T	V93D	0.993
19:10315478:A:G	F75S	0.993
19:10310592:A:T	L152Q	0.992
19:10310906:G:C	C117W	0.992
19:10310907:C:G	C117S	0.992

dbSNP variants (sampled 300 via entrez): RS1000881031 (19:10316684 G>A,C), RS1001053147 (19:10313663 A>ATATG), RS1001116323 (19:10313535 C>T), RS1001245362 (19:10317612 G>A,C,T), RS1003470226 (19:10314929 C>G,T), RS1003520128 (19:10311696 G>A), RS1003544808 (19:10312970 C>T), RS1004173300 (19:10315321 T>A,G), RS1005005494 (19:10317404 C>A), RS1005115639 (19:10316303 T>C), RS1005468013 (19:10315032 T>G), RS1005480081 (19:10317264 T>A,C), RS1005518955 (19:10314726 C>CT), RS1005869557 (19:10312159 C>G,T), RS1005946978 (19:10309855 G>C)

Disease associations

OMIM: gene MIM:614585 | disease phenotypes: MIM:251900

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	Strong	Autosomal recessive
inborn mitochondrial myopathy	Strong	Autosomal recessive

Mondo (2): inborn mitochondrial myopathy (MONDO:0009637), mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MONDO:0020714)

Orphanet (1): Mitochondrial myopathy (Orphanet:206966)

HPO phenotypes

40 total (30 of 40 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000158	Macroglossia
HP:0000505	Visual impairment
HP:0000508	Ptosis
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000821	Hypothyroidism
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001265	Hyporeflexia
HP:0001270	Motor delay
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001324	Muscle weakness
HP:0001347	Hyperreflexia
HP:0001427	Mitochondrial inheritance
HP:0001761	Pes cavus
HP:0001875	Decreased total neutrophil count
HP:0001935	Microcytic anemia
HP:0002094	Dyspnea
HP:0002151	Increased circulating lactate concentration
HP:0002240	Hepatomegaly
HP:0002515	Waddling gait
HP:0002913	Myoglobinuria
HP:0002919	Ketonuria
HP:0003128	Lactic acidosis
HP:0003201	Rhabdomyolysis
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003325	Limb-girdle muscle weakness
HP:0003326	Myalgia

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002740_28	Inflammatory skin disease	8.000000e-08
GCST004131_88	Inflammatory bowel disease	2.000000e-11
GCST004132_111	Crohn’s disease	3.000000e-13

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D017240	Mitochondrial Myopathies	C05.651.460; C10.668.491.500; C18.452.660.560

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	2
bisphenol A	increases expression	1
manganese chloride	decreases expression, increases abundance	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	decreases methylation, increases methylation	1
cylindrospermopsin	increases expression	1
abrine	increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Manganese	decreases expression, increases abundance	1
Methapyrilene	increases methylation	1
Methyl Methanesulfonate	increases expression	1
Smoke	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03323749	PHASE3	TERMINATED	A Trial to Evaluate Safety and Efficacy of Elamipretide Primary Mitochondrial Myopathy Followed by Open-Label Extension
NCT05162768	PHASE3	COMPLETED	Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD)
NCT00457314	PHASE2	UNKNOWN	The Effects of Exercise Versus Inactivity on People With Mitochondrial Muscle Disease
NCT02255422	PHASE2	COMPLETED	RTA 408 Capsules in Patients With Mitochondrial Myopathy - MOTOR
NCT02909400	PHASE2	COMPLETED	The KHENERGY Study
NCT04165239	PHASE2	COMPLETED	The KHENERGYZE Study
NCT04535609	PHASE2	COMPLETED	An Efficacy and Safety Study of 24 Week Treatment With Mavodelpar (REN001) in Primary Mitochondrial Myopathy Patients
NCT04641962	PHASE2	TERMINATED	A Study to Evaluate ASP0367 in Participants With Primary Mitochondrial Myopathy
NCT05590468	PHASE2	ACTIVE_NOT_RECRUITING	A Study to Evaluate Vitamin B3 Derivative to Treat Mitochondrial Myopathy
NCT05962333	PHASE2	UNKNOWN	Effect and Safety MABs Administration m.3243A>G Mutation Carriers
NCT06754098	PHASE2	RECRUITING	Doxecitin and Doxribthymine in Adult Subjects With Thymidine Kinase 2 (TK2) Deficiency
NCT03862846	PHASE1	TERMINATED	A Study of the Safety of REN001 in Patients With Primary Mitochondrial Myopathy
NCT03888716	PHASE1	COMPLETED	A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Disease
NCT04086329	PHASE1	RECRUITING	Validation of Oxygen Nanosensor in Mitochondrial Myopathy
NCT05063721	PHASE1	COMPLETED	MABs Therapy m.3243A>G Mutation Carriers
NCT05569122	PHASE1	RECRUITING	Applying pGz in Mitochondrial Disease
NCT06819683	PHASE1	RECRUITING	Validation of Nanosensor Oxygen Measurement
NCT05267574	PHASE2/PHASE3	TERMINATED	An Open Label, Long Term Safety Study of REN001 in Primary Mitochondrial Myopathy Patients (Stride Ahead)
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