KGD4

Summary

KGD4 (alpha-ketoglutarate dehydrogenase subunit 4, HGNC:16631) is a protein-coding gene on chromosome 5q13.2, encoding Alpha-ketoglutarate dehydrogenase component 4 (P82909). Molecular adapter that is necessary to form a stable 2-oxoglutarate dehydrogenase enzyme complex (OGDHC). It is a selective cancer dependency (DepMap: 12.9% of cell lines).

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. The mitochondrial ribosome (mitoribosome) consists of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 3p, 4q, 8p, 11q, 12q, and 20p.

Source: NCBI Gene 92259 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Leigh syndrome (Limited, GenCC)
• Clinical variants (ClinVar): 19 total — 1 pathogenic, 1 likely-pathogenic
• Cancer dependency (DepMap): dependent in 12.9% of screened cell lines
• MANE Select transcript: NM_033281

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16631
Approved symbol	KGD4
Name	alpha-ketoglutarate dehydrogenase subunit 4
Location	5q13.2
Locus type	gene with protein product
Status	Approved
Aliases	DC47, MRP-S36
Ensembl gene	ENSG00000134056
Ensembl biotype	protein_coding
OMIM	611996
Entrez	92259

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000256441, ENST00000503793, ENST00000507022, ENST00000512880, ENST00000602380, ENST00000932836

RefSeq mRNA: 1 — MANE Select: NM_033281 NM_033281

CCDS: CCDS34174

Canonical transcript exons

ENST00000256441 — 4 exons

Exon	Start	End
ENSE00001008509	69229208	69230158
ENSE00002035058	69217760	69217871
ENSE00003508554	69228200	69228387
ENSE00003578888	69226338	69226401

Expression profiles

Bgee: expression breadth ubiquitous, 139 present calls, max score 96.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.0454 / max 221.5980, expressed in 1817 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
56838	19.1936	1813
56839	7.8518	1748

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	96.83	gold quality
heart left ventricle	UBERON:0002084	96.79	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.39	gold quality
heart	UBERON:0000948	95.55	gold quality
right atrium auricular region	UBERON:0006631	95.25	gold quality
mucosa of transverse colon	UBERON:0004991	94.69	gold quality
gastrocnemius	UBERON:0001388	94.32	gold quality
adult mammalian kidney	UBERON:0000082	94.19	gold quality
muscle of leg	UBERON:0001383	94.11	gold quality
skeletal muscle organ	UBERON:0014892	94.07	gold quality
skeletal muscle tissue	UBERON:0001134	93.08	gold quality
kidney	UBERON:0002113	92.92	gold quality
primary visual cortex	UBERON:0002436	92.54	gold quality
lower esophagus mucosa	UBERON:0035834	92.42	gold quality
prefrontal cortex	UBERON:0000451	92.28	gold quality
cortex of kidney	UBERON:0001225	92.19	gold quality
transverse colon	UBERON:0001157	92.01	gold quality
endometrium	UBERON:0001295	91.99	gold quality
rectum	UBERON:0001052	91.70	gold quality
islet of Langerhans	UBERON:0000006	91.67	gold quality
muscle tissue	UBERON:0002385	91.55	gold quality
right lobe of liver	UBERON:0001114	91.49	gold quality
nucleus accumbens	UBERON:0001882	91.36	gold quality
anterior cingulate cortex	UBERON:0009835	91.28	gold quality
metanephros cortex	UBERON:0010533	91.28	gold quality
colon	UBERON:0001155	91.21	gold quality
adrenal tissue	UBERON:0018303	91.21	gold quality
duodenum	UBERON:0002114	91.15	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	91.12	gold quality
substantia nigra	UBERON:0002038	91.11	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	17.45
E-CURD-10	no	317.50
E-MTAB-6524	no	174.32

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

64 targeting KGD4, 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-3925-3P	100.00	69.95	1237
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-153-5P	99.89	73.86	6317

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 12.9% of screened cell lines.

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	kgd4	ENSDARG00000079823
mus_musculus	Mrps36	ENSMUSG00000061474
rattus_norvegicus	AC132020.1	ENSRNOG00000017757
rattus_norvegicus	Kgd4	ENSRNOG00000061213

Protein

Protein identifiers

Alpha-ketoglutarate dehydrogenase component 4 — P82909 (reviewed: P82909)

Alternative names: Alpha-ketoglutarate dehydrogenase subunit 4

All UniProt accessions (2): D6R941, P82909

UniProt curated annotations — full annotation on UniProt →

Function. Molecular adapter that is necessary to form a stable 2-oxoglutarate dehydrogenase enzyme complex (OGDHC). Enables the specific recruitment of E3 subunit to E2 subunit in the 2-oxoglutarate dehydrogenase complex (OGDHC).

Subunit / interactions. Component of the 2-oxoglutarate dehydrogenase complex (OGDHC), composed of OGDH (2-oxoglutarate dehydrogenase; also called E1 subunit), DLST (dihydrolipoamide succinyltransferase; also called E2 subunit) and DLD (dihydrolipoamide dehydrogenase; also called E3 subunit), and the assembly factor KGD4. Within OGDHC complex, interacts (via N-terminus) with E3 subunit and (via C-terminus) with E2 subunit.

Subcellular location. Mitochondrion.

Similarity. Belongs to the alpha-ketoglutarate dehydrogenase component 4 family.

RefSeq proteins (1): NP_150597* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR020373	Kgd4/YMR-31	Family

UniProt features (8 total): modified residue 5, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P82909-F1	74.79	0.21

Functional residue map

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

Post-translational modifications (5): 1, 5, 49, 61, 90

Function

Pathways and Gene Ontology

Reactome pathways

14 pathways

ID	Pathway
R-HSA-5368286	Mitochondrial translation initiation
R-HSA-5389840	Mitochondrial translation elongation
R-HSA-5419276	Mitochondrial translation termination
R-HSA-6783984	Glycine degradation
R-HSA-9853506	OGDH complex synthesizes succinyl-CoA from 2-OG
R-HSA-9937383	Mitochondrial ribosome-associated quality control
R-HSA-1428517	Aerobic respiration and respiratory electron transport
R-HSA-1430728	Metabolism
R-HSA-389661	Glyoxylate metabolism and glycine degradation
R-HSA-392499	Metabolism of proteins
R-HSA-5368287	Mitochondrial translation
R-HSA-71291	Metabolism of amino acids and derivatives
R-HSA-71403	Citric acid cycle (TCA cycle)
R-HSA-72766	Translation

MSigDB gene sets: 125 (showing top): IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_DICARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, WEI_MYCN_TARGETS_WITH_E_BOX, MODULE_331, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, WONG_MITOCHONDRIA_GENE_MODULE, GOBP_CELLULAR_RESPIRATION, GOBP_2_OXOGLUTARATE_METABOLIC_PROCESS, GOCC_OXIDOREDUCTASE_COMPLEX, GOCC_TRANSFERASE_COMPLEX, GOCC_ORGANELLE_INNER_MEMBRANE, GOCC_TRICARBOXYLIC_ACID_CYCLE_HETEROMERIC_ENZYME_COMPLEX

GO Biological Process (2): tricarboxylic acid cycle (GO:0006099), 2-oxoglutarate metabolic process (GO:0006103)

GO Molecular Function (1): protein-macromolecule adaptor activity (GO:0030674)

GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), oxoglutarate dehydrogenase complex (GO:0045252)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Mitochondrial translation	4
Metabolism	2
Glyoxylate metabolism and glycine degradation	1
Citric acid cycle (TCA cycle)	1
Metabolism of amino acids and derivatives	1
Translation	1
Aerobic respiration and respiratory electron transport	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
aerobic respiration	1
primary metabolic process	1
dicarboxylic acid metabolic process	1
protein binding	1
molecular adaptor activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
tricarboxylic acid cycle heteromeric enzyme complex	1
alpha-ketoacid dehydrogenase complex	1
transferase complex	1

Protein interactions and networks

STRING

890 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KGD4	MRPL42	Q9Y6G3	630
KGD4	MTIF3	Q9H2K0	543
KGD4	PTCD3	Q96EY7	534
KGD4	MRPL33	O75394	521
KGD4	MRPL16	Q9NX20	492
KGD4	DAP3	P51398	466
KGD4	MRPL52	Q86TS9	457
KGD4	MRPS27	Q92552	444
KGD4	GADD45GIP1	Q8TAE8	443
KGD4	MRPS15	P82914	436
KGD4	MRPL41	Q8IXM3	422
KGD4	MRPS35	P82673	417
KGD4	SNX30	Q5VWJ9	400
KGD4	MSANTD4	Q8NCY6	398
KGD4	PDHX	O00330	396

IntAct

40 interactions, top by confidence:

A	B	Type	Score
DLD	PDHX	psi-mi:“MI:0914”(association)	0.880
KGD4	DLD	psi-mi:“MI:0914”(association)	0.640
COLGALT2	COL1A1	psi-mi:“MI:0914”(association)	0.530
HMGCL	DBT	psi-mi:“MI:0914”(association)	0.530
ISX	MOCS3	psi-mi:“MI:0914”(association)	0.530
Hdac6	TDG	psi-mi:“MI:0914”(association)	0.350
HDAC6	GLOD5	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
ORF70	PDHX	psi-mi:“MI:0914”(association)	0.350
ABHD11	NME4	psi-mi:“MI:0914”(association)	0.350
CEP135	MCRIP1	psi-mi:“MI:0914”(association)	0.350
POC5	PDHX	psi-mi:“MI:0914”(association)	0.350
CEP135	WWP2	psi-mi:“MI:0914”(association)	0.350
CEP135	WDR91	psi-mi:“MI:0914”(association)	0.350
CHD8	IGLV4-60	psi-mi:“MI:0914”(association)	0.350
CAPZB	ENAH	psi-mi:“MI:0914”(association)	0.350
POLR2B	PALM3	psi-mi:“MI:0914”(association)	0.350
POLR2K	BDP1	psi-mi:“MI:0914”(association)	0.350
TCAIM	KGD4	psi-mi:“MI:0914”(association)	0.350
THEM5	GTPBP10	psi-mi:“MI:0914”(association)	0.350
COLGALT2	PLOD2	psi-mi:“MI:0914”(association)	0.350
KGD4	SPTBN2	psi-mi:“MI:0914”(association)	0.350
SIAH1	SIAH2	psi-mi:“MI:0914”(association)	0.350
ESRRG	TTR	psi-mi:“MI:0914”(association)	0.350
OGDHL	TMSB4X	psi-mi:“MI:0914”(association)	0.350
RAD23A	PIK3C2A	psi-mi:“MI:0914”(association)	0.350
TRMT61B	PRORP	psi-mi:“MI:0914”(association)	0.350

BioGRID (133): MRPS36 (Affinity Capture-MS), MRPS36 (Co-fractionation), MRPS36 (Affinity Capture-MS), MRPS36 (Affinity Capture-MS), MRPS36 (Affinity Capture-MS), MRPS36 (Affinity Capture-MS), MRPS36 (Affinity Capture-MS), MRPS36 (Affinity Capture-MS), MRPS36 (Affinity Capture-MS), MRPS36 (Proximity Label-MS), MRPS36 (Proximity Label-MS), MRPS36 (Proximity Label-MS), MRPS36 (Proximity Label-MS), MRPS36 (Proximity Label-MS), MRPS36 (Proximity Label-MS)

ESM2 similar proteins: A0A7P0TBJ1, A4IG66, A8E4M4, A9JSQ8, B0BN72, C9JLW8, E1C760, O75182, P82909, P97578, Q02225, Q0P4B9, Q13541, Q1JPG0, Q28C41, Q32LE2, Q3MHI4, Q3UGS4, Q3ULM0, Q4QQM5, Q4V8E4, Q504E7, Q5BLE2, Q5DTY9, Q5U465, Q5VSY0, Q5XIG5, Q5XJS0, Q5ZIU1, Q62141, Q63068, Q68DU8, Q6GR21, Q6IEG0, Q6PCG6, Q6TYB5, Q7L4E1, Q8AVJ1, Q8BK03, Q8C6E0

Diamond homologs: P82908, P82909, Q9CQX8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	10
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3909971	NM_033281.6(KGD4):c.42+1G>A	Pathogenic
3909972	NM_033281.6(KGD4):c.296G>C (p.Arg99Pro)	Likely pathogenic

SpliceAI

321 predictions. Top by Δscore:

Variant	Effect	Δscore
5:69226337:GGTA:G	acceptor_gain	1.0000
5:69228192:A:AG	acceptor_gain	1.0000
5:69228193:A:AG	acceptor_gain	1.0000
5:69228198:A:AG	acceptor_gain	1.0000
5:69228199:G:GA	acceptor_gain	1.0000
5:69228199:GT:G	acceptor_gain	1.0000
5:69228199:GTA:G	acceptor_gain	1.0000
5:69228199:GTAT:G	acceptor_gain	1.0000
5:69228199:GTATC:G	acceptor_gain	1.0000
5:69228266:G:GT	donor_gain	1.0000
5:69228387:AGTA:A	donor_loss	1.0000
5:69228388:G:C	donor_loss	1.0000
5:69228388:G:GG	donor_gain	1.0000
5:69228389:T:G	donor_loss	1.0000
5:69229205:CA:C	acceptor_loss	1.0000
5:69229206:A:AG	acceptor_gain	1.0000
5:69229206:A:T	acceptor_loss	1.0000
5:69229206:AGCGT:A	acceptor_gain	1.0000
5:69229207:G:GC	acceptor_gain	1.0000
5:69229207:GC:G	acceptor_gain	1.0000
5:69229207:GCGT:G	acceptor_gain	1.0000
5:69229207:GCGTG:G	acceptor_gain	1.0000
5:69218431:G:GG	donor_gain	0.9900
5:69226333:TTTA:T	acceptor_loss	0.9900
5:69226335:TAGGT:T	acceptor_loss	0.9900
5:69226336:A:G	acceptor_loss	0.9900
5:69226337:G:GA	acceptor_loss	0.9900
5:69226337:GGT:G	acceptor_gain	0.9900
5:69226397:CAATG:C	donor_gain	0.9900
5:69226398:AATGG:A	donor_loss	0.9900

AlphaMissense

666 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:69228351:G:C	R86S	0.997
5:69228351:G:T	R86S	0.997
5:69226368:T:C	F25L	0.996
5:69226370:T:A	F25L	0.996
5:69226370:T:G	F25L	0.996
5:69228350:G:C	R86T	0.996
5:69226369:T:C	F25S	0.995
5:69226363:T:C	I23T	0.994
5:69226369:T:G	F25C	0.992
5:69228383:T:A	I97N	0.992
5:69228350:G:T	R86M	0.990
5:69229209:G:C	R99P	0.990
5:69229214:G:C	G101R	0.988
5:69228383:T:G	I97S	0.987
5:69229211:G:A	G100R	0.987
5:69229211:G:C	G100R	0.987
5:69229215:G:A	G101D	0.987
5:69226342:T:A	V16D	0.986
5:69226379:A:C	R28S	0.986
5:69226379:A:T	R28S	0.986
5:69229212:G:A	G100E	0.986
5:69226363:T:A	I23K	0.985
5:69217862:G:C	R11S	0.984
5:69217862:G:T	R11S	0.984
5:69228383:T:C	I97T	0.984
5:69226368:T:G	F25V	0.981
5:69229212:G:T	G100V	0.981
5:69217855:C:A	A9D	0.980
5:69228349:A:G	R86G	0.979
5:69217861:G:T	R11M	0.978

dbSNP variants (sampled 300 via entrez): RS1000109357 (5:69223982 A>G), RS1000388209 (5:69217742 T>A,C), RS1000723205 (5:69216342 C>A), RS1000922904 (5:69222048 A>G), RS1001414494 (5:69219600 A>G), RS1001509982 (5:69218113 T>C), RS1001878102 (5:69217079 G>A,C,T), RS1002169367 (5:69226011 A>G), RS1002452662 (5:69227206 G>C), RS1002478839 (5:69219363 T>C), RS1003189804 (5:69216102 C>A), RS1003243908 (5:69216474 T>G), RS1003454794 (5:69220907 A>T), RS1003781970 (5:69222189 A>G), RS1003796759 (5:69224540 C>G)

Disease associations

OMIM: gene MIM:611996 | disease phenotypes: MIM:256000

GenCC curated gene-disease

Disease	Classification	Inheritance
Leigh syndrome	Limited	Autosomal recessive

Mondo (1): Leigh syndrome (MONDO:0009723)

Orphanet (1): Leigh syndrome (Orphanet:506)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D007888	Leigh Disease	C10.228.140.163.100.412; C16.320.565.189.412; C16.320.565.202.810.444; C18.452.132.100.412; C18.452.648.189.412; C18.452.648.202.810.444; C18.452.660.520

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression	2
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
sodium arsenite	decreases expression	1
perfluorooctanoic acid	increases expression	1
potassium chromate(VI)	decreases expression	1
jinfukang	decreases expression	1
Sunitinib	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	decreases phosphorylation	1
Cisplatin	increases expression	1
Ivermectin	decreases expression	1
Lipopolysaccharides	decreases expression	1
Smoke	decreases expression	1
Zinc	decreases expression	1
Sodium Selenite	increases expression	1
Copper Sulfate	decreases expression, increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01721733	PHASE2	COMPLETED	Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
NCT02352896	PHASE2	COMPLETED	Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
NCT03747328	PHASE2	WITHDRAWN	ABI-009 (Nab-sirolimus) in Patients With Genetically-confirmed Leigh or Leigh-like Syndrome
NCT06843811	PHASE2	ENROLLING_BY_INVITATION	Sirolimus for Leigh Syndrome
NCT06990984	PHASE2	NOT_YET_RECRUITING	A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS)
NCT02544217	PHASE1	COMPLETED	A Dose-escalating Clinical Trial With KH176
NCT04378075	PHASE2/PHASE3	TERMINATED	A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy
NCT01780168	Not specified	RECRUITING	The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT01803906	Not specified	ENROLLING_BY_INVITATION	Tissue Sample Study for Mitochondrial Disorders
NCT03137355	Not specified	RECRUITING	The International Registry for Leigh Syndrome
NCT05277363	Not specified	WITHDRAWN	A Study of the Natural Course of SURF1 Deficiency
NCT05554835	Not specified	RECRUITING	Global Registry and Natural History Study for Mitochondrial Disorders
NCT06967831	Not specified	RECRUITING	Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells