UBOX5

Summary

UBOX5 (U-box domain containing 5, HGNC:17777) is a protein-coding gene on chromosome 20p13, encoding RING finger protein 37 (O94941). May have a ubiquitin-protein ligase activity acting as an E3 ubiquitin-protein ligase or as a ubiquitin-ubiquitin ligase promoting elongation of ubiquitin chains on substrates.

This gene encodes a U-box domain containing protein. The encoded protein interacts with E2 enzymes and may play a role in the ubiquitination pathway. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 22888 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 84 total — 1 pathogenic
• MANE Select transcript: NM_014948

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17777
Approved symbol	UBOX5
Name	U-box domain containing 5
Location	20p13
Locus type	gene with protein product
Status	Approved
Aliases	UIP5, KIAA0860, Ubce7ip5, RNF37
Ensembl gene	ENSG00000185019
Ensembl biotype	protein_coding
OMIM	619675
Entrez	22888

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000217173, ENST00000348031, ENST00000449731, ENST00000896614

RefSeq mRNA: 3 — MANE Select: NM_014948 NM_001267584, NM_014948, NM_199415

CCDS: CCDS13046, CCDS13047

Canonical transcript exons

ENST00000217173 — 5 exons

Exon	Start	End
ENSE00001343747	3107573	3110314
ENSE00001343760	3123312	3123406
ENSE00001785824	3115305	3115466
ENSE00002197928	3121384	3122584
ENSE00003844415	3159766	3159865

Expression profiles

Bgee: expression breadth ubiquitous, 222 present calls, max score 90.11.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.9411 / max 193.3725, expressed in 1812 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
186124	23.9411	1812
186123	2.1369	1256

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
olfactory bulb	UBERON:0002264	90.11	gold quality
type B pancreatic cell	CL:0000169	88.24	gold quality
diaphragm	UBERON:0001103	84.55	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.55	gold quality
parotid gland	UBERON:0001831	82.15	silver quality
gastrocnemius	UBERON:0001388	81.77	gold quality
muscle of leg	UBERON:0001383	80.98	gold quality
muscle organ	UBERON:0001630	80.46	gold quality
skeletal muscle organ	UBERON:0014892	80.46	gold quality
lateral nuclear group of thalamus	UBERON:0002736	79.73	silver quality
vastus lateralis	UBERON:0001379	79.52	gold quality
hindlimb stylopod muscle	UBERON:0004252	79.50	gold quality
quadriceps femoris	UBERON:0001377	79.29	gold quality
triceps brachii	UBERON:0001509	79.27	gold quality
gluteal muscle	UBERON:0002000	79.12	gold quality
adrenal tissue	UBERON:0018303	78.88	gold quality
cervix squamous epithelium	UBERON:0006922	78.86	gold quality
skeletal muscle tissue	UBERON:0001134	78.76	gold quality
blood	UBERON:0000178	78.09	gold quality
CA1 field of hippocampus	UBERON:0003881	78.04	silver quality
epithelial cell of pancreas	CL:0000083	78.03	gold quality
popliteal artery	UBERON:0002250	78.01	gold quality
tibial artery	UBERON:0007610	77.99	gold quality
muscle tissue	UBERON:0002385	77.97	gold quality
inferior olivary complex	UBERON:0002127	77.44	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.25	gold quality
middle temporal gyrus	UBERON:0002771	77.01	silver quality
stromal cell of endometrium	CL:0002255	76.96	gold quality
leukocyte	CL:0000738	76.90	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	76.88	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	272.42
E-ANND-3	yes	3.22

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

69 targeting UBOX5, 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-6748-5P	100.00	65.81	1057
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-3147	99.52	66.34	388
HSA-MIR-3128	99.50	67.85	1258
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-135A-5P	99.36	71.85	1601
HSA-MIR-135B-5P	99.36	71.63	1613
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-3176	99.25	64.35	954
HSA-MIR-6734-3P	99.15	66.27	1627

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ubox5	ENSDARG00000058563
mus_musculus	Ubox5	ENSMUSG00000027300
rattus_norvegicus	Ubox5	ENSRNOG00000021230
drosophila_melanogaster	CG2218	FBGN0039767

Protein

Protein identifiers

RING finger protein 37 — O94941 (reviewed: O94941)

Alternative names: RING-type E3 ubiquitin transferase RNF37, U-box domain-containing protein 5, UbcM4-interacting protein 5, Ubiquitin-conjugating enzyme 7-interacting protein 5

All UniProt accessions (2): O94941, A2A2Q6

UniProt curated annotations — full annotation on UniProt →

Function. May have a ubiquitin-protein ligase activity acting as an E3 ubiquitin-protein ligase or as a ubiquitin-ubiquitin ligase promoting elongation of ubiquitin chains on substrates.

Subunit / interactions. Interacts with UBE2L3. Interacts with VCP.

Subcellular location. Nucleus.

Tissue specificity. Expressed in liver, heart, brain, kidney and testis.

Domain organisation. The U-box domain mediates interaction with E2 ubiquitin ligases and is required for the ubiquitin-protein ligase activity.

Pathway. Protein modification; protein ubiquitination.

Isoforms (2)

UniProt ID	Names	Canonical?
O94941-1	1	yes
O94941-2	2

RefSeq proteins (3): NP_001254513, NP_055763, NP_955447 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR003613	Ubox_domain	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR039847	Ubox5	Family
IPR039925	RNF37_RING-Ubox	Domain
IPR045696	Ubox5_N	Domain

Pfam: PF04564, PF14634, PF19318

UniProt features (7 total): sequence variant 2, chain 1, domain 1, zinc finger region 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O94941-F1	71.33	0.36

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 (1): 451

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-1280218	Adaptive Immune System
R-HSA-168256	Immune System
R-HSA-983169	Class I MHC mediated antigen processing & presentation

MSigDB gene sets: 78 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, AAGCCAT_MIR135A_MIR135B, GROSS_HYPOXIA_VIA_ELK3_UP, GROSS_HYPOXIA_VIA_ELK3_ONLY_DN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS, GOCC_NUCLEAR_BODY, GOMF_UBIQUITIN_UBIQUITIN_LIGASE_ACTIVITY, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_AMINOACYLTRANSFERASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_BINDING

GO Biological Process (2): protein polyubiquitination (GO:0000209), protein ubiquitination (GO:0016567)

GO Molecular Function (8): zinc ion binding (GO:0008270), ubiquitin protein ligase binding (GO:0031625), ubiquitin-ubiquitin ligase activity (GO:0034450), ubiquitin-protein transferase activity (GO:0004842), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872), ubiquitin protein ligase activity (GO:0061630)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), focal adhesion (GO:0005925), nuclear body (GO:0016604)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Class I MHC mediated antigen processing & presentation	1
Immune System	1
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein ubiquitination	1
protein modification by small protein conjugation	1
transition metal ion binding	1
ubiquitin-like protein ligase binding	1
ubiquitin protein ligase activity	1
ubiquitin-like protein transferase activity	1
binding	1
catalytic activity	1
cation binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
cell-substrate junction	1
nucleoplasm	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1277 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBOX5	LZTS3	O60299	619
UBOX5	PTPRA	P18433	573
UBOX5	SH2D4B	Q5SQS7	535
UBOX5	ZNF367	Q7RTV3	529
UBOX5	FBXO39	Q8N4B4	509
UBOX5	SMYD1	Q8NB12	505
UBOX5	VCP	P55072	504
UBOX5	RNF215	Q9Y6U7	504
UBOX5	UBE2U	Q5VVX9	492
UBOX5	CLRN3	Q8NCR9	481
UBOX5	GNRH2	O43555	478
UBOX5	UBR1	Q8IWV7	475
UBOX5	RNF24	Q9Y225	475
UBOX5	KCTD9	Q7L273	472
UBOX5	GPRIN3	Q6ZVF9	459

IntAct

43 interactions, top by confidence:

A	B	Type	Score
UBOX5	MLH1	psi-mi:“MI:0915”(physical association)	0.850
MLH1	UBOX5	psi-mi:“MI:0915”(physical association)	0.850
VCP	UBOX5	psi-mi:“MI:0915”(physical association)	0.720
UBOX5	VCP	psi-mi:“MI:0915”(physical association)	0.720
UBOX5		psi-mi:“MI:0915”(physical association)	0.560
UBOX5	ATXN1	psi-mi:“MI:0915”(physical association)	0.560
UBOX5	TARDBP	psi-mi:“MI:0915”(physical association)	0.560
UBE2L3	UBOX5	psi-mi:“MI:0915”(physical association)	0.550
UBE2L3	UBOX5	psi-mi:“MI:0914”(association)	0.550
EMILIN1	METTL15	psi-mi:“MI:0914”(association)	0.530
UBOX5	HSPA2	psi-mi:“MI:0915”(physical association)	0.400
HIP2	UBOX5	psi-mi:“MI:0915”(physical association)	0.370
UBE2D1	UBOX5	psi-mi:“MI:0915”(physical association)	0.370
UBOX5	UBE2D2	psi-mi:“MI:0915”(physical association)	0.370
UBOX5	UBE2D3	psi-mi:“MI:0915”(physical association)	0.370
UBE2H	UBOX5	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (34): UBOX5 (Two-hybrid), UBOX5 (Biochemical Activity), UBE2D3 (Reconstituted Complex), UBOX5 (Two-hybrid), UBOX5 (Two-hybrid), UBOX5 (Affinity Capture-Western), UBE2L3 (Reconstituted Complex), UBE2L3 (Two-hybrid), UBOX5 (Two-hybrid), UBOX5 (Two-hybrid), UBOX5 (Affinity Capture-MS), UBOX5 (Affinity Capture-MS), HSPA2 (Affinity Capture-MS), UBOX5 (Affinity Capture-MS), UBOX5 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8GLK3, A0A974CYQ5, A5WW08, D2HNY3, D2HWM5, E7F6T8, F1ND48, O15040, O54714, O70260, O94941, P28715, P35658, P35689, P55265, P97432, Q14596, Q3TLR7, Q5E9J6, Q5F479, Q5FWP4, Q5NVC7, Q5RC94, Q5RF77, Q5RHI5, Q5ZJW8, Q66JG1, Q69ZT1, Q6AYH3, Q6P256, Q6PCD5, Q76CY8, Q7TPQ3, Q80U93, Q810L3, Q8CBW4, Q8CIK8, Q8CIN9, Q8K2L8, Q8WZ73

Diamond homologs: O94941, Q09349, Q925F4, O95155, Q9ES00

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	UBOX5	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 21 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
TICAM1, RIP1-mediated IKK complex recruitment	5	187.8×	1e-09
IKK complex recruitment mediated by RIP1	5	155.2×	3e-09
Synthesis of active ubiquitin: roles of E1 and E2 enzymes	6	138.2×	1e-10
E3 ubiquitin ligases ubiquitinate target proteins	6	72.6×	3e-09
Antigen processing: Ubiquitination & Proteasome degradation	11	25.6×	2e-12

GO biological processes:

GO term	Partners	Fold	FDR
protein K11-linked ubiquitination	6	117.6×	8e-10
protein K48-linked ubiquitination	7	59.0×	1e-09
protein polyubiquitination	9	51.9×	8e-12
ubiquitin-dependent protein catabolic process	8	29.7×	6e-09
protein ubiquitination	8	16.6×	5e-07
proteasome-mediated ubiquitin-dependent protein catabolic process	5	13.0×	8e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	68
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3899913	NM_021826.5(FASTKD5):c.1901T>C (p.Leu634Pro)	Pathogenic

SpliceAI

1685 predictions. Top by Δscore:

Variant	Effect	Δscore
20:3123307:TTTA:T	donor_loss	1.0000
20:3123308:TTA:T	donor_loss	1.0000
20:3123309:TA:T	donor_loss	1.0000
20:3123403:CAGC:C	acceptor_gain	1.0000
20:3123405:GC:G	acceptor_gain	1.0000
20:3123406:CC:C	acceptor_gain	1.0000
20:3123407:C:CC	acceptor_gain	1.0000
20:3123407:C:T	acceptor_gain	1.0000
20:3123408:T:C	acceptor_gain	1.0000
20:3123408:T:TC	acceptor_gain	1.0000
20:3149259:TA:T	acceptor_gain	1.0000
20:3149261:C:CC	acceptor_gain	1.0000
20:3159761:CTCA:C	donor_loss	1.0000
20:3159762:TCA:T	donor_loss	1.0000
20:3159763:CA:C	donor_loss	1.0000
20:3159765:C:CT	donor_loss	1.0000
20:3123402:GCAGC:G	acceptor_gain	0.9900
20:3123403:CAGCC:C	acceptor_gain	0.9900
20:3123404:AGC:A	acceptor_gain	0.9900
20:3159764:A:AC	donor_gain	0.9900
20:3159765:C:CC	donor_gain	0.9900
20:3110325:A:T	acceptor_gain	0.9800
20:3115339:C:CA	donor_gain	0.9800
20:3115509:C:CT	acceptor_gain	0.9800
20:3122583:ATCT:A	acceptor_loss	0.9800
20:3122584:TCTA:T	acceptor_loss	0.9800
20:3122585:C:CC	acceptor_gain	0.9800
20:3122585:C:T	acceptor_loss	0.9800
20:3122586:T:G	acceptor_loss	0.9800
20:3123306:GTTTA:G	donor_loss	0.9800

AlphaMissense

3528 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:3121737:C:G	R301P	0.997
20:3121806:A:G	L278P	0.997
20:3121725:T:C	D305G	0.996
20:3121850:G:C	F263L	0.996
20:3121850:G:T	F263L	0.996
20:3121851:A:G	F263S	0.996
20:3121852:A:G	F263L	0.996
20:3121718:G:C	F307L	0.995
20:3121718:G:T	F307L	0.995
20:3121720:A:G	F307L	0.995
20:3122055:C:T	G195D	0.995
20:3121773:A:G	L289P	0.994
20:3121788:A:T	I284N	0.994
20:3121806:A:T	L278Q	0.994
20:3122056:C:G	G195R	0.994
20:3121806:A:C	L278R	0.993
20:3121750:C:G	A297P	0.992
20:3121839:A:T	I267N	0.992
20:3122501:G:C	F46L	0.992
20:3122501:G:T	F46L	0.992
20:3122503:A:G	F46L	0.992
20:3122517:A:G	F41S	0.992
20:3122553:A:G	L29P	0.992
20:3121664:C:A	K325N	0.991
20:3121664:C:G	K325N	0.991
20:3121719:A:G	F307S	0.991
20:3121744:A:G	W299R	0.991
20:3121744:A:T	W299R	0.991
20:3122061:A:T	V193E	0.991
20:3122475:A:T	V55D	0.991

dbSNP variants (sampled 300 via entrez): RS1000005551 (20:3119462 G>A,T), RS1000098150 (20:3137239 C>G), RS1000210640 (20:3130469 C>T), RS1000276147 (20:3126651 G>A), RS1000331277 (20:3139337 A>G), RS1000350120 (20:3160480 T>TA), RS1000456827 (20:3124616 G>A), RS1000485952 (20:3119810 C>A,T), RS1000555515 (20:3137544 C>A), RS1000703270 (20:3138983 A>G), RS1000788867 (20:3126676 A>G), RS1000819023 (20:3112510 C>T), RS1000828755 (20:3112821 C>T), RS1000860237 (20:3113920 G>A), RS1000860442 (20:3157154 G>C)

Disease associations

OMIM: gene MIM:619675 | disease phenotypes: MIM:256000, MIM:621431

GenCC curated gene-disease

Mondo (2): Leigh syndrome (MONDO:0009723), mitochondrial complex IV deficiency, nuclear type 24 (MONDO:0980755)

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

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST003542_168	Night sleep phenotypes	9.000000e-06
GCST009523_67	Household income	4.000000e-09
GCST009523_68	Household income	1.000000e-08
GCST009524_276	Household income (MTAG)	3.000000e-09
GCST009524_38	Household income (MTAG)	7.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009695	household income

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

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
Sunitinib	increases expression	1
Leflunomide	increases expression	1
Acetaldehyde	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, affects expression	1
Benzo(a)pyrene	affects methylation	1
Hydralazine	affects cotreatment, decreases expression	1
Ozone	affects expression, increases abundance	1
Smoke	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	affects cotreatment, decreases expression	1
Cyclosporine	increases expression	1
Okadaic Acid	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 telomerase immortalized cell line

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

Cellosaurus	Name	Category	Sex
CVCL_C3KP	N/Tert-1 UBOX5	Telomerase immortalized cell line	Male

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
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