TACO1

Summary

TACO1 (translational activator of cytochrome c oxidase I, HGNC:24316) is a protein-coding gene on chromosome 17q23.3, encoding Translational activator of cytochrome c oxidase 1 (Q9BSH4). Acts as a translational activator of mitochondrially-encoded cytochrome c oxidase 1.

This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.

Source: NCBI Gene 51204 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 184 total — 2 pathogenic, 13 likely-pathogenic
• Phenotypes (HPO): 56
• MANE Select transcript: NM_016360

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24316
Approved symbol	TACO1
Name	translational activator of cytochrome c oxidase I
Location	17q23.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000136463
Ensembl biotype	protein_coding
OMIM	612958
Entrez	51204

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000258975, ENST00000581120, ENST00000682060, ENST00000684587, ENST00000921365

RefSeq mRNA: 1 — MANE Select: NM_016360 NM_016360

CCDS: CCDS11640

Canonical transcript exons

ENST00000258975 — 5 exons

Exon	Start	End
ENSE00001136876	63607287	63607464
ENSE00001180561	63600895	63601363
ENSE00001258995	63606313	63606440
ENSE00002696776	63607802	63608365
ENSE00003547115	63604534	63604640

Expression profiles

Bgee: expression breadth ubiquitous, 265 present calls, max score 94.13.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.0720 / max 89.0512, expressed in 1806 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
162207	14.1378	1792
162208	3.1224	1439
162209	0.6465	365
208313	0.1653	64

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	94.13	gold quality
mucosa of transverse colon	UBERON:0004991	93.69	gold quality
right lobe of liver	UBERON:0001114	93.47	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.00	gold quality
gastrocnemius	UBERON:0001388	91.89	gold quality
heart left ventricle	UBERON:0002084	91.82	gold quality
muscle of leg	UBERON:0001383	91.68	gold quality
cardiac ventricle	UBERON:0002082	91.51	gold quality
muscle organ	UBERON:0001630	90.55	gold quality
liver	UBERON:0002107	89.41	gold quality
right atrium auricular region	UBERON:0006631	89.41	gold quality
heart	UBERON:0000948	89.14	gold quality
adult mammalian kidney	UBERON:0000082	88.83	gold quality
cardiac atrium	UBERON:0002081	88.73	gold quality
skeletal muscle tissue	UBERON:0001134	88.07	gold quality
vastus lateralis	UBERON:0001379	87.85	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	87.76	gold quality
quadriceps femoris	UBERON:0001377	87.57	gold quality
right adrenal gland	UBERON:0001233	87.43	gold quality
muscle tissue	UBERON:0002385	87.17	gold quality
right adrenal gland cortex	UBERON:0035827	87.17	gold quality
left adrenal gland	UBERON:0001234	86.92	gold quality
gluteal muscle	UBERON:0002000	86.79	gold quality
prefrontal cortex	UBERON:0000451	86.65	gold quality
triceps brachii	UBERON:0001509	86.55	gold quality
transverse colon	UBERON:0001157	86.53	gold quality
left adrenal gland cortex	UBERON:0035825	86.27	gold quality
deltoid	UBERON:0001476	86.24	gold quality
left ventricle myocardium	UBERON:0006566	85.82	gold quality
adrenal cortex	UBERON:0001235	85.62	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting TACO1, 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-298	99.63	67.56	1916
HSA-MIR-4758-3P	99.12	63.96	869
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-760	98.81	66.65	1392
HSA-MIR-6870-3P	98.08	65.10	692
HSA-MIR-3173-5P	97.35	65.82	1282
HSA-MIR-6799-3P	97.35	65.60	1302
HSA-MIR-6748-3P	97.20	65.66	836
HSA-MIR-7848-3P	95.69	65.00	363

Literature-anchored findings (GeneRIF, showing 3)

• Study identified a specific defect in the synthesis of the mitochondrial DNA-encoded COX I subunit in a pedigree segregating late-onset Leigh syndrome and cytochrome c oxidase (COX) deficiency (PMID:19503089)
• report on clinical findings of patients with TACO1 gene mutation leading to cytochrome c oxidase deficiency. (PMID:20727754)
• The human mitochondrial translation factor TACO1 alleviates mitoribosome stalling at polyproline stretches. (PMID:39036954)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	taco1	ENSDARG00000062943
		ENSDARG00000100552
mus_musculus	Taco1	ENSMUSG00000001983
rattus_norvegicus	Taco1	ENSRNOG00000008405
drosophila_melanogaster	CG4957	FBGN0032205
caenorhabditis_elegans		WBGENE00021757

Protein

Protein identifiers

Translational activator of cytochrome c oxidase 1 — Q9BSH4 (reviewed: Q9BSH4)

Alternative names: Coiled-coil domain-containing protein 44, Translational activator of mitochondrially-encoded cytochrome c oxidase I

All UniProt accessions (2): A0A804HJB7, Q9BSH4

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a translational activator of mitochondrially-encoded cytochrome c oxidase 1.

Subcellular location. Mitochondrion.

Disease relevance. Mitochondrial complex IV deficiency, nuclear type 8 (MC4DN8) [MIM:619052] An autosomal recessive mitochondrial disorder characterized by slowly progressive cognitive dysfunction, dystonia or visual impairment that appear after an uneventful early childhood. Additional features include gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability. Brain imaging shows white matter abnormalities in the basal ganglia. Serum lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TACO1 family.

RefSeq proteins (1): NP_057444* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002876	Transcrip_reg_TACO1-like	Family
IPR017856	Integrase-like_N	Homologous_superfamily
IPR026564	Transcrip_reg_TACO1-like_dom3	Homologous_superfamily
IPR029072	YebC-like	Homologous_superfamily
IPR048300	TACO1_YebC-like_2nd/3rd_dom	Domain
IPR049083	TACO1_YebC_N	Domain

Pfam: PF01709, PF20772

UniProt features (6 total): chain 1, region of interest 1, coiled-coil region 1, compositionally biased region 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
9OLF	ELECTRON MICROSCOPY	2.46
9PR4	ELECTRON MICROSCOPY	2.77
9PGL	ELECTRON MICROSCOPY	2.9
9PGF	ELECTRON MICROSCOPY	2.93
9PSM	ELECTRON MICROSCOPY	2.98
9PGI	ELECTRON MICROSCOPY	3.02
9PG8	ELECTRON MICROSCOPY	3.06

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BSH4-F1	84.91	0.67

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-9864848	Complex IV assembly
R-HSA-1428517	Aerobic respiration and respiratory electron transport
R-HSA-1430728	Metabolism
R-HSA-611105	Respiratory electron transport

MSigDB gene sets: 157 (showing top): GOBP_COGNITION, GOBP_BEHAVIOR, GOBP_RESPIRATORY_CHAIN_COMPLEX_IV_ASSEMBLY, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_CYTOCHROME_COMPLEX_ASSEMBLY, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_LEARNING, HAN_SATB1_TARGETS_DN, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GOBP_POSITIVE_REGULATION_OF_TRANSLATION, GOBP_REGULATION_OF_TRANSLATION, BLALOCK_ALZHEIMERS_DISEASE_DN, GOBP_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS

GO Biological Process (4): mitochondrial respiratory chain complex IV assembly (GO:0033617), motor learning (GO:0061743), regulation of mitochondrial translation (GO:0070129), regulation of translation (GO:0006417)

GO Molecular Function (4): mRNA binding (GO:0003729), rRNA binding (GO:0019843), mitochondrial ribosome binding (GO:0097177), protein binding (GO:0005515)

GO Cellular Component (1): mitochondrion (GO:0005739)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Respiratory electron transport	1
Metabolism	1
Aerobic respiration and respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA binding	2
mitochondrion	1
respiratory chain complex IV assembly	1
mitochondrial respiratory chain complex assembly	1
learning	1
regulation of translation	1
mitochondrial translation	1
regulation of mitochondrial gene expression	1
translation	1
post-transcriptional regulation of gene expression	1
regulation of protein metabolic process	1
ribosome binding	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1762 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TACO1	LRPPRC	P42704	887
TACO1	COX15	Q7KZN9	884
TACO1	COX10	Q12887	876
TACO1	SURF1	Q15526	833
TACO1	MT-CO1	P00395	812
TACO1	TSFM	P43897	800
TACO1	SCO1	O75880	773
TACO1	COX6B1	P14854	763
TACO1	SCO2	O43819	761
TACO1	FASTKD2	Q9NYY8	756
TACO1	MT-CO3	P00414	742
TACO1	COA3	Q9Y2R0	722
TACO1	BCS1L	Q9Y276	721
TACO1	MSS51	Q4VC12	678
TACO1	COX14	Q96I36	667

IntAct

78 interactions, top by confidence:

A	B	Type	Score
SAT1	TACO1	psi-mi:“MI:0915”(physical association)	0.670
COA3	MT-CO1	psi-mi:“MI:0914”(association)	0.610
CALCOCO2	TACO1	psi-mi:“MI:0915”(physical association)	0.560
KRT34	TACO1	psi-mi:“MI:0915”(physical association)	0.560
MDFI	TACO1	psi-mi:“MI:0915”(physical association)	0.560
TRIM23	TACO1	psi-mi:“MI:0915”(physical association)	0.560
KRT40	TACO1	psi-mi:“MI:0915”(physical association)	0.560
RINT1	TACO1	psi-mi:“MI:0915”(physical association)	0.560
GOLGA6L9	TACO1	psi-mi:“MI:0915”(physical association)	0.560
MTUS2	TACO1	psi-mi:“MI:0915”(physical association)	0.560
TRIM27	TACO1	psi-mi:“MI:0915”(physical association)	0.560
CIB4	TACO1	psi-mi:“MI:0915”(physical association)	0.560
LNX1	TACO1	psi-mi:“MI:0915”(physical association)	0.560
KRT31	TACO1	psi-mi:“MI:0915”(physical association)	0.560
PPP1R16B	TACO1	psi-mi:“MI:0915”(physical association)	0.560
DR1	TACO1	psi-mi:“MI:0915”(physical association)	0.560
TACO1	GTF3C3	psi-mi:“MI:0915”(physical association)	0.560
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
Arhgap30	ARHGAP6	psi-mi:“MI:0914”(association)	0.350
Arhgap1	ZNF207	psi-mi:“MI:0914”(association)	0.350
ARHGAP26	NUDT21	psi-mi:“MI:0914”(association)	0.350
CCNT1	CBX4	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350

BioGRID (369): TACO1 (Two-hybrid), GAPDH (Co-fractionation), TACO1 (Co-fractionation), TACO1 (Affinity Capture-MS), TACO1 (Proximity Label-MS), TACO1 (Proximity Label-MS), TACO1 (Proximity Label-MS), TACO1 (Proximity Label-MS), TACO1 (Proximity Label-MS), TACO1 (Proximity Label-MS), TACO1 (Proximity Label-MS), TACO1 (Proximity Label-MS), TACO1 (Affinity Capture-MS), TACO1 (Two-hybrid), TACO1 (Two-hybrid)

ESM2 similar proteins: A6QPQ5, A9X1A9, O95707, P0C2C1, P82664, P82670, P82675, P82915, P82919, P82933, Q08BI9, Q0P5E7, Q0VFH6, Q2KIB9, Q2KID9, Q2KIJ6, Q2TBK2, Q2TBR2, Q3MHY7, Q3SYS0, Q3T040, Q58DQ5, Q58DV5, Q5C9Z4, Q5R7B0, Q5REJ1, Q5REY4, Q5RFM3, Q641X9, Q7Z2W9, Q7Z7H8, Q8N3Z3, Q8TCC3, Q924T2, Q99N85, Q99N87, Q99N94, Q9BSH4, Q9BYD2, Q9BYD6

Diamond homologs: A0L4W1, A1ASF6, A1VC41, A3DH53, A4IRB5, A4XI43, A5D3F8, A5G9Y5, A5IJV5, A5V885, A5VS72, A6LLP5, A6Q2G5, A6WY63, A7HM20, A7HUZ5, A7IJU9, A8F5Z3, A8IM90, A8YUH0, A8ZT17, A9BHC2, A9KMB4, A9M7L4, A9WWJ3, B0K0L3, B0K951, B0S1S1, B1L927, B1MCJ6, B2A5L8, B2RYT9, B2TML4, B2V2S0, B3E045, B3E787, B3ES20, B3WD20, B4S5F5, B5EAH0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	13
Uncertain significance	98
Likely benign	48
Benign	9

Top pathogenic / likely-pathogenic (15)

Variant ID	HGVS	Classification
1033410	NM_016360.4(TACO1):c.97dup (p.Arg33fs)	Pathogenic
982266	NM_016360.4(TACO1):c.421C>T (p.Arg141Ter)	Pathogenic
3064510	NM_016360.4(TACO1):c.255_258del (p.Leu84_Cys85insTer)	Likely pathogenic
3582593	NM_016360.4(TACO1):c.75_76delinsC (p.Arg25fs)	Likely pathogenic
3582601	NM_016360.4(TACO1):c.280G>T (p.Glu94Ter)	Likely pathogenic
3582610	NM_016360.4(TACO1):c.428del (p.Pro143fs)	Likely pathogenic
3582613	NM_016360.4(TACO1):c.516-1G>A	Likely pathogenic
3582617	NM_016360.4(TACO1):c.775G>T (p.Glu259Ter)	Likely pathogenic
411	NM_016360.4(TACO1):c.472dup (p.His158fs)	Likely pathogenic
418512	NM_016360.4(TACO1):c.620T>C (p.Leu207Pro)	Likely pathogenic
4527041	NM_016360.4(TACO1):c.387+1G>A	Likely pathogenic
4540002	NM_016360.4(TACO1):c.226G>T (p.Glu76Ter)	Likely pathogenic
818073	NM_016360.4(TACO1):c.97del (p.Arg33fs)	Likely pathogenic
931471	NM_016360.4(TACO1):c.583del (p.Asp195fs)	Likely pathogenic
987231	NM_016360.4(TACO1):c.252_253del (p.Cys85fs)	Likely pathogenic

SpliceAI

595 predictions. Top by Δscore:

Variant	Effect	Δscore
17:63604525:A:AG	acceptor_gain	1.0000
17:63604526:A:G	acceptor_gain	1.0000
17:63604527:A:G	acceptor_gain	1.0000
17:63604528:T:G	acceptor_gain	1.0000
17:63604529:CTCA:C	acceptor_loss	1.0000
17:63604530:TCAGA:T	acceptor_loss	1.0000
17:63604532:A:AG	acceptor_gain	1.0000
17:63604532:A:C	acceptor_loss	1.0000
17:63604532:AGAAG:A	acceptor_gain	1.0000
17:63604533:G:GT	acceptor_gain	1.0000
17:63604533:GA:G	acceptor_gain	1.0000
17:63604533:GAA:G	acceptor_gain	1.0000
17:63604533:GAAGG:G	acceptor_gain	1.0000
17:63604637:GGAG:G	donor_gain	1.0000
17:63604638:G:GT	donor_gain	1.0000
17:63604638:GAGGT:G	donor_loss	1.0000
17:63604640:GGTG:G	donor_loss	1.0000
17:63604641:GTGT:G	donor_loss	1.0000
17:63604642:T:G	donor_loss	1.0000
17:63606307:TTGCA:T	acceptor_loss	1.0000
17:63606308:TGCA:T	acceptor_loss	1.0000
17:63606309:GCA:G	acceptor_loss	1.0000
17:63606310:CAGA:C	acceptor_loss	1.0000
17:63606311:A:AG	acceptor_gain	1.0000
17:63606312:G:GA	acceptor_gain	1.0000
17:63606312:GA:G	acceptor_gain	1.0000
17:63606312:GAA:G	acceptor_gain	1.0000
17:63606312:GAAAT:G	acceptor_gain	1.0000
17:63606437:ATGG:A	donor_gain	1.0000
17:63606437:ATGGG:A	donor_loss	1.0000

AlphaMissense

1941 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:63604587:T:C	C112R	0.994
17:63601293:G:C	K70N	0.991
17:63601293:G:T	K70N	0.991
17:63601270:T:A	W63R	0.990
17:63601270:T:C	W63R	0.990
17:63607318:T:C	F183L	0.990
17:63607320:T:A	F183L	0.990
17:63607320:T:G	F183L	0.990
17:63601272:G:C	W63C	0.988
17:63601272:G:T	W63C	0.988
17:63604589:T:G	C112W	0.987
17:63601354:G:C	A91P	0.986
17:63607803:T:C	F232S	0.986
17:63607944:T:C	L279P	0.986
17:63607399:G:C	A210P	0.984
17:63607424:T:A	V218D	0.984
17:63606368:T:C	L148P	0.983
17:63607408:G:C	A213P	0.983
17:63607993:C:A	N295K	0.982
17:63607993:C:G	N295K	0.982
17:63601269:G:C	K62N	0.981
17:63601269:G:T	K62N	0.981
17:63607400:C:A	A210E	0.981
17:63607415:C:A	A215D	0.981
17:63606371:T:C	L149P	0.979
17:63604591:G:C	R113P	0.978
17:63604567:T:C	L105P	0.976
17:63606350:G:A	G142D	0.976
17:63604588:G:A	C112Y	0.975
17:63606349:G:C	G142R	0.975

dbSNP variants (sampled 300 via entrez): RS1000742286 (17:63605477 A>G), RS1001670168 (17:63603613 G>C), RS1001966007 (17:63602928 G>A), RS1002026067 (17:63604233 G>T), RS1002141972 (17:63603948 G>A), RS1002746222 (17:63602222 G>A), RS1003983557 (17:63607585 T>C), RS1004127096 (17:63606336 G>A,C), RS1004580086 (17:63605947 A>T), RS1005223283 (17:63605013 C>A), RS1005513192 (17:63604018 CAAA>C,CA,CAA,CAAAA,CAAAAA), RS1005725018 (17:63604298 A>C), RS1006001047 (17:63604306 C>G), RS1006139611 (17:63603251 A>T), RS1006593774 (17:63602757 T>C,G)

Disease associations

OMIM: gene MIM:612958 | disease phenotypes: MIM:619052, MIM:220110

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial complex IV deficiency, nuclear type 8	Strong	Autosomal recessive
Leigh syndrome	Moderate	Autosomal recessive
Leigh syndrome with leukodystrophy	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
Leigh syndrome	Moderate	AR
mitochondrial disease	Definitive	AR

Mondo (4): mitochondrial complex IV deficiency, nuclear type 8 (MONDO:0033638), mitochondrial complex IV deficiency, nuclear type 1 (MONDO:0700250), Leigh syndrome (MONDO:0009723), (MONDO:0016815)

Orphanet (0):

HPO phenotypes

56 total (30 of 56 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000093	Proteinuria
HP:0000124	Renal tubular dysfunction
HP:0000218	High palate
HP:0000407	Sensorineural hearing impairment
HP:0000508	Ptosis
HP:0000580	Pigmentary retinopathy
HP:0000597	Ophthalmoparesis
HP:0000648	Optic atrophy
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001285	Spastic tetraparesis
HP:0001290	Generalized hypotonia
HP:0001348	Brisk reflexes
HP:0001410	Decreased liver function
HP:0001427	Mitochondrial inheritance
HP:0001508	Failure to thrive
HP:0001639	Hypertrophic cardiomyopathy
HP:0001903	Anemia
HP:0001994	Renal Fanconi syndrome
HP:0002064	Spastic gait
HP:0002067	Bradykinesia
HP:0002078	Truncal ataxia
HP:0002098	Respiratory distress
HP:0002151	Increased circulating lactate concentration

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006867_79	Type 2 diabetes	4.000000e-08

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

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases expression, affects methylation	3
Acetaminophen	affects cotreatment, decreases expression	2
Valproic Acid	decreases expression, affects expression	2
Cyclosporine	decreases expression	2
Cadmium Chloride	decreases expression	2
bisphenol F	affects cotreatment, increases expression	1
bisphenol A	increases expression	1
ochratoxin A	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	decreases methylation	1
cyclic 3’,5’-uridine monophosphate	affects binding	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
Arsenic	affects methylation	1
Catechin	increases expression, affects cotreatment	1
Dexamethasone	affects cotreatment, increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Indomethacin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Copper Sulfate	decreases 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