LIPT1

Summary

LIPT1 (lipoyltransferase 1, HGNC:29569) is a protein-coding gene on chromosome 2q11.2, encoding Lipoyl amidotransferase LIPT1, mitochondrial (Q9Y234). Lipoyl amidotransferase that catalyzes the transfer of lipoyl moieties from lipoyl-protein H of the glycine cleavage system (lipoyl-GCSH) to E2 subunits of the pyruvate dehydrogenase complex (PDCE2). It is a selective cancer dependency (DepMap: 15.5% of cell lines).

The process of transferring lipoic acid to proteins is a two-step process. The first step is the activation of lipoic acid by lipoate-activating enzyme to form lipoyl-AMP. For the second step, the protein encoded by this gene transfers the lipoyl moiety to apoproteins. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 13. Read-through transcription also exists between this gene and the neighboring downstream mitochondrial ribosomal protein L30 (MRPL30) gene.

Source: NCBI Gene 51601 — RefSeq curated summary.

At a glance

• Gene–disease (curated): lipoyl transferase 1 deficiency (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 124 total — 1 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 26
• Cancer dependency (DepMap): dependent in 15.5% of screened cell lines
• MANE Select transcript: NM_145199

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29569
Approved symbol	LIPT1
Name	lipoyltransferase 1
Location	2q11.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC12290, MGC13378
Ensembl gene	ENSG00000144182
Ensembl biotype	protein_coding
OMIM	610284
Entrez	51601

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 29 protein_coding, 1 retained_intron

ENST00000393471, ENST00000393473, ENST00000415142, ENST00000434566, ENST00000436234, ENST00000449211, ENST00000480170, ENST00000651691, ENST00000909186, ENST00000909187, ENST00000909188, ENST00000909189, ENST00000909190, ENST00000909191, ENST00000909192, ENST00000909193, ENST00000909194, ENST00000909195, ENST00000909196, ENST00000909197, ENST00000909198, ENST00000909199, ENST00000924019, ENST00000924020, ENST00000924021, ENST00000924022, ENST00000924023, ENST00000924024, ENST00000924025, ENST00000941974

RefSeq mRNA: 5 — MANE Select: NM_145199 NM_001204830, NM_015929, NM_145197, NM_145198, NM_145199

CCDS: CCDS2039

Canonical transcript exons

ENST00000651691 — 2 exons

Exon	Start	End
ENSE00003845362	99154967	99155051
ENSE00003847184	99161957	99163137

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 91.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.5141 / max 71.7245, expressed in 1718 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
21559	6.9806	1699
21560	0.5335	301

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.78	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.18	gold quality
calcaneal tendon	UBERON:0003701	86.64	gold quality
biceps brachii	UBERON:0001507	85.90	gold quality
skin of hip	UBERON:0001554	85.58	gold quality
corpus epididymis	UBERON:0004359	85.07	gold quality
germinal epithelium of ovary	UBERON:0001304	84.72	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	84.66	gold quality
gluteal muscle	UBERON:0002000	84.43	gold quality
cauda epididymis	UBERON:0004360	84.16	gold quality
triceps brachii	UBERON:0001509	84.10	gold quality
epithelium of nasopharynx	UBERON:0001951	83.55	gold quality
caput epididymis	UBERON:0004358	83.53	gold quality
deltoid	UBERON:0001476	83.05	gold quality
granulocyte	CL:0000094	82.76	gold quality
right uterine tube	UBERON:0001302	82.17	gold quality
hindlimb stylopod muscle	UBERON:0004252	82.02	gold quality
diaphragm	UBERON:0001103	81.84	silver quality
leukocyte	CL:0000738	81.62	gold quality
cartilage tissue	UBERON:0002418	81.58	gold quality
upper leg skin	UBERON:0004262	81.51	gold quality
epithelial cell of pancreas	CL:0000083	81.43	gold quality
tendon	UBERON:0000043	81.41	gold quality
parotid gland	UBERON:0001831	81.41	gold quality
spleen	UBERON:0002106	81.34	gold quality
tibia	UBERON:0000979	81.33	gold quality
mononuclear cell	CL:0000842	81.30	gold quality
monocyte	CL:0000576	81.22	gold quality
vastus lateralis	UBERON:0001379	81.06	gold quality
superficial temporal artery	UBERON:0001614	80.91	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.98

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 15.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 6)

• LIPT1 protein is required for lipoylation and activation of 2-ketoacid dehydrogenases in humans. (PMID:24256811)
• Data report a putative case of impaired free or H protein-derived lipoic acid attachment due to LIPT1 mutations as a cause of PDH and alpha-KGDH deficiencies. (PMID:24341803)
• LIPT1 mutations impair 2KDH lipoylation and activity. LIPT1 deficiency increases 2-HG and depletes structural lipids in plasma. LIPT1 deficiency impedes lipogenesis but increases fatty acid oxidation. (PMID:31042466)
• System analysis based on the cuproptosis-related genes identifies LIPT1 as a novel therapy target for liver hepatocellular carcinoma. (PMID:36195876)
• Aberrant expression of cuproptosis-related gene LIPT1 is associated with metabolic dysregulation of fatty acid and prognosis in hepatocellular carcinoma. (PMID:37668796)
• Cuproptosis-related gene LIPT1 as a prognostic indicator in non-small cell lung cancer: Functional involvement and regulation of ATOX1 expression. (PMID:38041690)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	lipt1	ENSDARG00000025233
mus_musculus	Lipt1	ENSMUSG00000037216
rattus_norvegicus	Lipt1	ENSRNOG00000018464
drosophila_melanogaster	Lipt1	FBGN0265178
caenorhabditis_elegans	lipt-1	WBGENE00001590

Protein

Protein identifiers

Lipoyl amidotransferase LIPT1, mitochondrial — Q9Y234 (reviewed: Q9Y234)

Alternative names: Lipoate biosynthesis protein, Lipoate-protein ligase, Lipoyl ligase, Lipoyltransferase 1

All UniProt accessions (5): Q9Y234, C9J6A9, C9J7C5, C9JUU5, C9JW10

UniProt curated annotations — full annotation on UniProt →

Function. Lipoyl amidotransferase that catalyzes the transfer of lipoyl moieties from lipoyl-protein H of the glycine cleavage system (lipoyl-GCSH) to E2 subunits of the pyruvate dehydrogenase complex (PDCE2). Unable to catalyze the transfer of octanoyl from octanoyl-GCSH to PDCE2. In vitro, it is also able to catalyze the transfer of the lipoyl group from lipoyl-AMP to the specific lysine residue of lipoyl domains of lipoate-dependent enzymes but this reaction may not be physiologically relevant.

Subcellular location. Mitochondrion.

Tissue specificity. Highly expressed in skeletal muscle and heart, moderately in kidney and pancreas, and detected at lower levels in liver, brain, placenta and lung.

Disease relevance. Lipoyltransferase 1 deficiency (LIPT1D) [MIM:616299] An autosomal recessive disorder due to a defect in lipoic acid metabolism, resulting in severe lactic acidosis and metabolic decompensation. Variable clinical manifestations include delayed psychomotor development, severe hypotonia, dystonia, loss of head control, coma, bradycardia, and pulmonary hypertension. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Protein modification; protein lipoylation via exogenous pathway; protein N(6)-(lipoyl)lysine from lipoate: step 2/2.

Similarity. Belongs to the LplA family.

RefSeq proteins (5): NP_001191759, NP_057013, NP_660198, NP_660199, NP_660200* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004143	BPL_LPL_catalytic	Domain
IPR004562	LipoylTrfase_LipoateP_Ligase	Family
IPR045864	aa-tRNA-synth_II/BPL/LPL	Homologous_superfamily

Pfam: PF21948

Catalyzed reactions (Rhea), 2 shown:

• N(6)-[(R)-lipoyl]-L-lysyl-[glycine-cleavage complex H protein] + L-lysyl-[lipoyl-carrier protein] = L-lysyl-[glycine-cleavage complex H protein] + N(6)-[(R)-lipoyl]-L-lysyl-[lipoyl-carrier protein] (RHEA:16413)
• (R)-lipoyl-5’-AMP + L-lysyl-[lipoyl-carrier protein] = N(6)-[(R)-lipoyl]-L-lysyl-[lipoyl-carrier protein] + AMP + 2 H(+) (RHEA:20473)

UniProt features (12 total): sequence variant 5, binding site 4, transit peptide 1, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y234-F1	91.49	0.84

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): 107; 151; 161; 179

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-9857492	Protein lipoylation
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 182 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_PEPTIDYL_LYSINE_MODIFICATION, GOBP_PROTEIN_MATURATION, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_DN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, GOBP_LIPID_METABOLIC_PROCESS, DANG_BOUND_BY_MYC, GOCC_MITOCHONDRIAL_MATRIX, BENPORATH_MYC_MAX_TARGETS, KIM_WT1_TARGETS_DN, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_N_ACYLTRANSFERASE_ACTIVITY, chr2q11, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, KOYAMA_SEMA3B_TARGETS_DN

GO Biological Process (3): lipid metabolic process (GO:0006629), protein lipoylation (GO:0009249), protein modification process (GO:0036211)

GO Molecular Function (6): obsolete N-acyltransferase activity (GO:0016410), lipoyltransferase activity (GO:0017118), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746), acyltransferase activity, transferring groups other than amino-acyl groups (GO:0016747)

GO Cellular Component (3): cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Post-translational protein modification	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
primary metabolic process	1
peptidyl-lysine modification	1
protein maturation	1
protein metabolic process	1
macromolecule modification	1
acyltransferase activity, transferring groups other than amino-acyl groups	1
binding	1
catalytic activity	1
transferase activity	1
acyltransferase activity	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

1104 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LIPT1	GCSH	P23434	940
LIPT1	DLAT	P10515	932
LIPT1	LIPT2	A6NK58	913
LIPT1	LIAS	O43766	846
LIPT1	NFU1	Q9UMS0	693
LIPT1	BOLA3	Q53S33	647
LIPT1	MYBPH	Q13203	620
LIPT1	PDHX	O00330	609
LIPT1	IBA57	Q5T440	599
LIPT1	PDHB	P11177	593
LIPT1	TPK1	Q9H3S4	591
LIPT1	MECR	Q9BV79	576
LIPT1	OXSM	Q9NWU1	557
LIPT1	A0A1W2PS29	A0A1W2PS29	546
LIPT1	A0A1W2PPQ1	A0A1W2PPQ1	536

IntAct

31 interactions, top by confidence:

A	B	Type	Score
PRKCA	LIPT1	psi-mi:“MI:0915”(physical association)	0.670
CASP6	LIPT1	psi-mi:“MI:0915”(physical association)	0.560
LAMP2	LIPT1	psi-mi:“MI:0915”(physical association)	0.560
LIPT1	YWHAG	psi-mi:“MI:0915”(physical association)	0.560
LIPT1	SETDB1	psi-mi:“MI:0915”(physical association)	0.560
KAT5	LIPT1	psi-mi:“MI:0915”(physical association)	0.560
LMO3	LIPT1	psi-mi:“MI:0915”(physical association)	0.560
LIPT1	METTL15	psi-mi:“MI:0914”(association)	0.530
IFITM3	STX12	psi-mi:“MI:0914”(association)	0.350
SLC25A28	DNAJB6	psi-mi:“MI:0914”(association)	0.350
FOS	RSL1D1	psi-mi:“MI:0914”(association)	0.350
LIPT1	RP2	psi-mi:“MI:0914”(association)	0.350
SLC35G1	FAM234B	psi-mi:“MI:0914”(association)	0.350
SLC3A2	SCAMP3	psi-mi:“MI:0914”(association)	0.350
SVOP	PGRMC1	psi-mi:“MI:0914”(association)	0.350

BioGRID (30): UBR1 (Affinity Capture-MS), DBT (Affinity Capture-MS), MPP6 (Affinity Capture-MS), STAT2 (Affinity Capture-MS), METTL15 (Affinity Capture-MS), SUFU (Affinity Capture-MS), DBT (Affinity Capture-MS), STAT2 (Affinity Capture-MS), METTL15 (Affinity Capture-MS), UBR1 (Affinity Capture-MS), SUFU (Affinity Capture-MS), LIPT1 (Affinity Capture-MS), LIPT1 (Affinity Capture-MS), METTL15 (Affinity Capture-MS), DBT (Affinity Capture-MS)

ESM2 similar proteins: A6ZPT1, B3LM95, B3LQ66, B5VLD2, F4I4W2, O13476, O13629, O13926, O14353, O42662, O46419, O74516, O74927, O94277, O94429, O94445, O94536, O94636, O94642, O94710, P15179, P32048, P38149, P40506, P41888, P47051, P48445, P48527, P53164, P53848, P87168, Q06005, Q09644, Q10313, Q10350, Q12429, Q1MTR1, Q29RH3, Q42523, Q42777

Diamond homologs: A0A0H3JR16, A0KMH0, A1AJV3, A1JPK8, A4SQ09, A4TIN0, A4W6A2, A5F8E4, A6TI00, A7FHI0, A7MIG6, A7ZVS8, A8A8B4, A8ALX2, A8GDS3, A9MRA3, A9N7E6, A9R087, B1IS33, B1JJ36, B1LEJ1, B1XFJ6, B2K5K7, B2TZR8, B4T4I0, B4TH09, B4TU46, B5BAK2, B5F534, B5FTD0, B5R2K1, B5R9V4, B5Y273, B6I6N3, B7LEN2, B7LNS6, B7LXU8, B7MNJ3, B7MTD2, B7NH54

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	5
Uncertain significance	64
Likely benign	23
Benign	19

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
189834	NM_145199.3(LIPT1):c.535A>G (p.Thr179Ala)	Pathogenic
1208630	NM_145199.3(LIPT1):c.2T>C (p.Met1Thr)	Likely pathogenic
189835	NM_145199.3(LIPT1):c.212C>T (p.Ser71Phe)	Likely pathogenic
242526	NM_145199.3(LIPT1):c.806G>A (p.Trp269Ter)	Likely pathogenic
3377019	NM_145199.3(LIPT1):c.244C>T (p.Gln82Ter)	Likely pathogenic
433559	NM_145199.3(LIPT1):c.131A>G (p.Asn44Ser)	Likely pathogenic

SpliceAI

636 predictions. Top by Δscore:

Variant	Effect	Δscore
2:99155049:CAG:C	donor_loss	0.9900
2:99155050:AG:A	donor_loss	0.9900
2:99155051:GG:G	donor_loss	0.9900
2:99155052:G:A	donor_loss	0.9900
2:99155052:G:GA	donor_loss	0.9900
2:99155053:T:A	donor_loss	0.9900
2:99155081:G:T	donor_gain	0.9900
2:99155050:AGGTG:A	donor_gain	0.9800
2:99155081:G:GT	donor_gain	0.9800
2:99161953:A:G	acceptor_gain	0.9800
2:99155052:G:GG	donor_gain	0.9700
2:99161952:A:AG	acceptor_gain	0.9700
2:99161955:A:G	acceptor_gain	0.9700
2:99155025:GGCC:G	donor_gain	0.9600
2:99155026:GCCG:G	donor_gain	0.9600
2:99155048:GCAG:G	donor_gain	0.9600
2:99161956:G:GG	acceptor_gain	0.9400
2:99161956:GCAT:G	acceptor_gain	0.9400
2:99161958:ATGCT:A	acceptor_gain	0.9400
2:99155042:G:GT	donor_gain	0.9200
2:99161956:GC:G	acceptor_gain	0.9200
2:99155480:A:AG	acceptor_gain	0.9000
2:99155481:G:GG	acceptor_gain	0.9000
2:99156701:A:AG	acceptor_gain	0.9000
2:99161954:A:AG	acceptor_gain	0.8800
2:99161959:T:G	acceptor_gain	0.8600
2:99155176:TGTTG:T	donor_gain	0.8500
2:99155481:GTTCA:G	acceptor_gain	0.8500
2:99161946:A:AG	acceptor_gain	0.8500
2:99161958:AT:A	acceptor_gain	0.8500

AlphaMissense

2484 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:99162258:A:C	S101R	0.993
2:99162260:T:A	S101R	0.993
2:99162260:T:G	S101R	0.993
2:99162253:G:C	R99T	0.992
2:99162254:A:C	R99S	0.991
2:99162254:A:T	R99S	0.991
2:99162250:G:C	R98P	0.989
2:99162191:A:C	Q78H	0.986
2:99162191:A:T	Q78H	0.986
2:99162576:A:C	S207R	0.986
2:99162578:C:A	S207R	0.986
2:99162578:C:G	S207R	0.986
2:99162253:G:T	R99I	0.982
2:99162249:C:G	R98G	0.980
2:99162194:T:A	N79K	0.978
2:99162194:T:G	N79K	0.978
2:99162792:T:C	F279L	0.978
2:99162794:T:A	F279L	0.978
2:99162794:T:G	F279L	0.978
2:99162094:C:A	A46D	0.976
2:99162444:T:C	S163P	0.976
2:99162453:G:C	A166P	0.976
2:99162454:C:A	A166D	0.975
2:99162161:T:A	N68K	0.972
2:99162161:T:G	N68K	0.972
2:99162198:T:A	W81R	0.972
2:99162198:T:C	W81R	0.972
2:99162367:T:C	L137P	0.971
2:99162418:T:C	L154P	0.971
2:99162440:A:C	K161N	0.971

dbSNP variants (sampled 300 via entrez): RS1000186375 (2:99162464 C>T), RS1000484305 (2:99163341 T>C), RS1001153875 (2:99154753 G>C), RS1001488539 (2:99156431 T>C), RS1001608320 (2:99163390 C>T), RS1001857240 (2:99156868 T>C), RS1001945468 (2:99161489 A>G), RS1002344354 (2:99154267 G>A), RS1002439365 (2:99154454 G>A), RS1002992565 (2:99157164 T>A), RS1003445946 (2:99153086 C>A), RS1003794270 (2:99158415 G>A), RS1003963017 (2:99158878 A>C,G), RS1004405308 (2:99156362 C>G), RS1004737826 (2:99157865 C>G)

Disease associations

OMIM: gene MIM:610284 | disease phenotypes: MIM:616299, MIM:256000

GenCC curated gene-disease

Disease	Classification	Inheritance
lipoyl transferase 1 deficiency	Strong	Autosomal recessive
Leigh syndrome with leukodystrophy	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Leigh syndrome	Moderate	AR

Mondo (4): lipoyl transferase 1 deficiency (MONDO:0014576), Leigh syndrome (MONDO:0009723), hearing loss disorder (MONDO:0005365), (MONDO:0016815)

Orphanet (2): Lipoyl transferase 1 deficiency (Orphanet:401862), Leigh syndrome (Orphanet:506)

HPO phenotypes

26 total (26 of 26 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001272	Cerebellar atrophy
HP:0001285	Spastic tetraparesis
HP:0001332	Dystonia
HP:0001410	Decreased liver function
HP:0001522	Death in infancy
HP:0001662	Bradycardia
HP:0002071	Abnormality of extrapyramidal motor function
HP:0002092	Pulmonary arterial hypertension
HP:0002119	Ventriculomegaly
HP:0002151	Increased circulating lactate concentration
HP:0002188	Delayed CNS myelination
HP:0002376	Developmental regression
HP:0002500	Abnormal cerebral white matter morphology
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0003128	Lactic acidosis
HP:0003217	Hyperglutaminemia
HP:0003573	Increased total bilirubin
HP:0003593	Infantile onset
HP:0003648	Lacticaciduria
HP:0008358	Hyperprolinemia
HP:0008936	Axial hypotonia
HP:0020078	Alaninuria
HP:0025376	Hyperglutaminuria

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001241_13	Bipolar disorder	3.000000e-06

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D034381	Hearing Loss	C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
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

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, decreases methylation	7
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
jinfukang	decreases expression	1
Arsenic	affects methylation	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	increases expression	1
Copper	decreases expression, affects binding	1
Disulfiram	decreases expression, affects binding	1
Diuron	decreases expression	1
Doxorubicin	increases expression	1
Formaldehyde	decreases expression	1
Gallic Acid	increases expression	1
Quercetin	decreases expression	1
Selenium	affects cotreatment, decreases expression	1
Vitamin E	affects cotreatment, decreases expression	1
Cyclosporine	increases expression	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00205881	PHASE4	COMPLETED	Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System
NCT00331539	PHASE4	UNKNOWN	Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant
NCT00424307	PHASE4	UNKNOWN	Bilateral Cochlear Implant Benefit in Young Children
NCT00765635	PHASE4	COMPLETED	Chlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal
NCT03321006	PHASE4	COMPLETED	Treating Hearing Loss to Improve Mood and Cognition in Older Adults
NCT01499901	PHASE3	WITHDRAWN	Comparison of the Bilateral Sequential and Simultaneous Cochlear Implantation in the Deaf Children
NCT02561091	PHASE3	COMPLETED	AM-111 in the Treatment of Acute Inner Ear Hearing Loss
NCT03331627	PHASE3	COMPLETED	Safety and Efficacy of STR001-IT and STR001-ER in Patients With SSHL
NCT05532657	PHASE3	ACTIVE_NOT_RECRUITING	ACHIEVE Brain Health Follow-Up Study
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)
NCT00013455	PHASE2	COMPLETED	Quantifying Auditory Perceptual Learning Following Hearing Aid Fitting
NCT00323427	PHASE2	COMPLETED	Clinical Trial of the Living Well With Hearing Loss Workshop
NCT00552786	PHASE2	COMPLETED	Antioxidation Medication for Noise-induced Hearing Loss
NCT00802425	PHASE2	COMPLETED	Efficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss
NCT01139281	PHASE2	COMPLETED	The Protective Effect of Ginkgo Biloba Extract on Cisplatin-induced Ototoxicity in Humans
NCT01451853	PHASE2	UNKNOWN	SPI-1005 for Prevention and Treatment of Chemotherapy Induced Hearing Loss
NCT01588925	PHASE2	COMPLETED	Hearing Preservation Using Dexamethasone and Hyaluronic Acid for Cochlear Implantation
NCT01773278	PHASE2	RECRUITING	Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
NCT02832128	PHASE2	COMPLETED	Evaluating Possible Improvement in Speech and Hearing Tests After 28 Days of Dosing of the Study Drug AUT00063 Compared to Placebo (QuicKfire)
NCT04915183	PHASE2	RECRUITING	Atorvastatin to Reduce Cisplatin-Induced Hearing Loss Among Individuals With Head and Neck Cancer
NCT05258773	PHASE2	COMPLETED	Evaluation of the Presence of SENS-401 in the Perilymph
NCT06340633	PHASE2	RECRUITING	SPI-1005 in Adults Receiving Cochlear Implant
NCT02544217	PHASE1	COMPLETED	A Dose-escalating Clinical Trial With KH176
NCT00582946	PHASE1	COMPLETED	Wide-Bandwidth Open Canal Hearing Aid For Better Multitalker Speech Understanding
NCT00584155	PHASE1	WITHDRAWN	Protection From Cisplatin Ototoxicity by Lactated Ringers
NCT01206829	PHASE1	UNKNOWN	Hearing Impairment, Cognitive Therapy and Coping
NCT01256229	PHASE1	COMPLETED	Outcomes In Children With Developmental Delay And Deafness
NCT01343394	PHASE1	WITHDRAWN	Safety of Autologous Human Umbilical Cord Blood Mononuclear Fraction to Treat Acquired Hearing Loss in Children
NCT01452607	PHASE1	COMPLETED	Study to Evaluate the Safety and Pharmacokinetics of SPI-1005
NCT02259595	PHASE1	COMPLETED	Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC
NCT04041440	PHASE1	COMPLETED	Speech Recognition Training in Children With Hearing Loss
NCT07218913	PHASE1	RECRUITING	Testing the Addition of Pedmark to Cisplatin Chemotherapy for Reducing Drug-Induced Ear Damage in Men With Stage II-III Metastatic Testicular Germ Cell Tumors
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