APOO

Summary

APOO (apolipoprotein O, HGNC:28727) is a protein-coding gene on chromosome Xp22.11, encoding MICOS complex subunit MIC26 (Q9BUR5). Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane.

This gene is a member of the apolipoprotein family. Members of this protein family are involved in the transport and metabolism of lipids. The encoded protein associates with HDL, LDL and VLDL lipoproteins and is characterized by chondroitin-sulfate glycosylation. This protein may be involved in preventing lipid accumulation in the myocardium in obese and diabetic patients. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 4, 5, 12 and 16.

Source: NCBI Gene 79135 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Moderate, GenCC)
• Clinical variants (ClinVar): 116 total — 1 pathogenic
• MANE Select transcript: NM_024122

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28727
Approved symbol	APOO
Name	apolipoprotein O
Location	Xp22.11
Locus type	gene with protein product
Status	Approved
Aliases	MGC4825, My025, Mic23, MIC26, MICOS26
Ensembl gene	ENSG00000184831
Ensembl biotype	protein_coding
OMIM	300753
Entrez	79135

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 24 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000379226, ENST00000439528, ENST00000476598, ENST00000490078, ENST00000633372, ENST00000633432, ENST00000633609, ENST00000634086, ENST00000634188, ENST00000899502, ENST00000899503, ENST00000899504, ENST00000899505, ENST00000899506, ENST00000899507, ENST00000899508, ENST00000899509, ENST00000899510, ENST00000899511, ENST00000899512, ENST00000899513, ENST00000899514, ENST00000899515, ENST00000913487, ENST00000913488, ENST00000913489, ENST00000913490, ENST00000969328

RefSeq mRNA: 1 — MANE Select: NM_024122 NM_024122

CCDS: CCDS14208

Canonical transcript exons

ENST00000379226 — 9 exons

Exon	Start	End
ENSE00001295024	23878915	23879034
ENSE00001316126	23874403	23874457
ENSE00001319822	23880845	23880952
ENSE00001884150	23833353	23833612
ENSE00001953643	23907694	23907938
ENSE00003563287	23856302	23856382
ENSE00003578073	23840313	23840377
ENSE00003653487	23858642	23858733
ENSE00003666837	23868593	23868688

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 97.93.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.4834 / max 135.4164, expressed in 1814 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
198736	11.7180	1772
198733	7.4162	1688
198735	1.5965	879
198729	0.3192	118
198734	0.1835	92
198732	0.1123	33
198730	0.0739	43
198731	0.0637	22

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
decidua	UBERON:0002450	97.93	gold quality
heart right ventricle	UBERON:0002080	97.61	gold quality
left ventricle myocardium	UBERON:0006566	96.98	gold quality
prefrontal cortex	UBERON:0000451	96.12	gold quality
pons	UBERON:0000988	95.67	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.38	gold quality
lateral nuclear group of thalamus	UBERON:0002736	95.32	gold quality
triceps brachii	UBERON:0001509	95.26	gold quality
anterior cingulate cortex	UBERON:0009835	95.23	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.23	gold quality
cardiac ventricle	UBERON:0002082	95.22	gold quality
heart left ventricle	UBERON:0002084	95.22	gold quality
cingulate cortex	UBERON:0003027	95.22	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.17	gold quality
myocardium	UBERON:0002349	95.08	gold quality
diaphragm	UBERON:0001103	95.02	gold quality
frontal cortex	UBERON:0001870	94.96	gold quality
vastus lateralis	UBERON:0001379	94.89	gold quality
biceps brachii	UBERON:0001507	94.86	gold quality
neocortex	UBERON:0001950	94.84	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.81	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	94.57	gold quality
right frontal lobe	UBERON:0002810	94.52	gold quality
apex of heart	UBERON:0002098	94.47	gold quality
cortical plate	UBERON:0005343	94.44	gold quality
ventricular zone	UBERON:0003053	94.43	gold quality
cerebral cortex	UBERON:0000956	94.32	gold quality
bronchial epithelial cell	CL:0002328	94.30	gold quality
Brodmann (1909) area 46	UBERON:0006483	94.27	gold quality
quadriceps femoris	UBERON:0001377	94.20	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.44

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

41 targeting APOO, 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-4262	100.00	73.26	3931
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-7159-3P	99.51	70.17	1920
HSA-MIR-3140-5P	99.39	69.04	1136
HSA-MIR-6839-3P	99.39	68.86	1301
HSA-MIR-6505-3P	99.34	67.39	1071
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-20B-3P	99.29	67.05	784
HSA-MIR-10522-5P	99.26	68.50	2087
HSA-MIR-4426	99.17	66.74	1949
HSA-MIR-3675-3P	99.09	67.70	968

Literature-anchored findings (GeneRIF, showing 10)

• apolipoprotein O is the first chondroitin sulfate chain containing apolipoprotein (PMID:16956892)
• relationships between plasma apoO levels and high-sensitive C-reactive protein (hs-CRP) levels, as well as other lipid parameters in healthy subjects and patients with established acute coronary syndrome (PMID:22693255)
• It is likely that apoO participates in fatty acid metabolism and the inflammatory response in HepG2 cells. (PMID:24341743)
• APOO represents a link between impaired mitochondrial function and cardiomyopathy onset, and targeting APOO-dependent metabolic remodeling has potential as a strategy to adjust heart metabolism and protect the myocardium from impaired contractility. (PMID:24743151)
• The human apolipoprotein MIC26 is a bona fide subunit of the MICOS complex. (PMID:25764979)
• Loss of MICOS complex integrity and mitochondrial dysfunction, but not TDP-43 mitochondrial location, is essential for the development of severe motor neuron disease. (PMID:30092269)
• Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features. (PMID:32439808)
• MIC26 and MIC27 cooperate to regulate cardiolipin levels and the landscape of OXPHOS complexes. (PMID:32788226)
• Role of apolipoprotein O in autophagy via the p38 mitogen-activated protein kinase signaling pathway in myocardial infarction. (PMID:35588578)
• A X-linked nonsense APOO/MIC26 variant causes a lethal mitochondrial disease with progeria-like phenotypes. (PMID:37649161)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	apoob	ENSDARG00000026444
danio_rerio	apooa	ENSDARG00000104696
mus_musculus	Apoo	ENSMUSG00000079508
rattus_norvegicus	Apoo	ENSRNOG00000046918
rattus_norvegicus	Apool2	ENSRNOG00000065327
drosophila_melanogaster	Mic26-27	FBGN0038400
caenorhabditis_elegans		WBGENE00019333

Paralogs (1): APOOL (ENSG00000155008)

Protein

Protein identifiers

MICOS complex subunit MIC26 — Q9BUR5 (reviewed: Q9BUR5)

Alternative names: Apolipoprotein O, MICOS complex subunit MIC23, Protein FAM121B

All UniProt accessions (6): A0A0J9YWW6, A0A0J9YXS4, A0A0J9YXT7, Q9BUR5, G3V1B6, H7C1U8

UniProt curated annotations — full annotation on UniProt →

Function. Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Plays a crucial role in crista junction formation and mitochondrial function. Can promote cardiac lipotoxicity by enhancing mitochondrial respiration and fatty acid metabolism in cardiac myoblasts. Promotes cholesterol efflux from macrophage cells. Detected in HDL, LDL and VLDL. Secreted by a microsomal triglyceride transfer protein (MTTP)-dependent mechanism, probably as a VLDL-associated protein that is subsequently transferred to HDL.

Subunit / interactions. Component of the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MICOS10/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and MICOS13/MIC13. This complex was also known under the names MINOS or MitOS complex. he MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2 (together described as components of the mitochondrial outer membrane sorting assembly machinery (SAM) complex) and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9. The MICOS and SAM complexes together with DNAJC11 are part of a large protein complex spanning both membranes termed the mitochondrial intermembrane space bridging (MIB) complex. Interacts with IMMT/MIC60. Interacts with MICOS10/MIC10 and APOOL/MIC27.

Subcellular location. Mitochondrion inner membrane. Secreted. Mitochondrion. Golgi apparatus membrane. Endoplasmic reticulum membrane.

Tissue specificity. Expressed in all tissues examined. Up-regulated in diabetic heart.

Post-translational modifications. O-glycosylation; glycosaminoglycan of chondroitin-sulfate type.

Similarity. Belongs to the apolipoprotein O/MICOS complex subunit Mic27 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BUR5-1	1	yes
Q9BUR5-2	2

RefSeq proteins (1): NP_077027* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019166	MIC26/MIC27	Family
IPR033182	MIC26/MIC27_animal	Family

Pfam: PF09769

UniProt features (5 total): signal peptide 1, chain 1, transmembrane region 1, glycosylation site 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BUR5-F1	74.34	0.05

Functional residue map

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

Glycosylation sites (1): 162

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8949613	Cristae formation
R-HSA-1592230	Mitochondrial biogenesis
R-HSA-1852241	Organelle biogenesis and maintenance

MSigDB gene sets: 160 (showing top): CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, CAGCTG_AP4_Q5, GOBP_CRISTAE_FORMATION, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, GOBP_INNER_MITOCHONDRIAL_MEMBRANE_ORGANIZATION, TGIF_01, GOCC_MITOCHONDRIAL_ENVELOPE, CYTAGCAAY_UNKNOWN, GOBP_MEMBRANE_ORGANIZATION, GATA1_02, GOBP_LIPID_LOCALIZATION, GOCC_LOW_DENSITY_LIPOPROTEIN_PARTICLE, GOCC_ORGANELLE_MEMBRANE_CONTACT_SITE, GOCC_OUTER_MITOCHONDRIAL_MEMBRANE_PROTEIN_COMPLEX

GO Biological Process (3): lipid transport (GO:0006869), inner mitochondrial membrane organization (GO:0007007), cristae formation (GO:0042407)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (18): Golgi membrane (GO:0000139), SAM complex (GO:0001401), extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), endoplasmic reticulum membrane (GO:0005789), cytosol (GO:0005829), very-low-density lipoprotein particle (GO:0034361), low-density lipoprotein particle (GO:0034362), high-density lipoprotein particle (GO:0034364), mitochondrial crista junction (GO:0044284), MICOS complex (GO:0061617), MIB complex (GO:0140275), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), membrane (GO:0016020), mitochondrial membrane (GO:0031966)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Mitochondrial biogenesis	1
Organelle biogenesis and maintenance	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	4
cellular anatomical structure	3
intracellular membrane-bounded organelle	3
organelle membrane	2
plasma lipoprotein particle	2
inner mitochondrial membrane protein complex	2
endomembrane system	2
transport	1
lipid localization	1
mitochondrial membrane organization	1
inner mitochondrial membrane organization	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
mitochondrial outer membrane translocase complex	1
organelle inner membrane	1
mitochondrial membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
triglyceride-rich plasma lipoprotein particle	1
mitochondrial inner membrane	1
organelle membrane contact site	1
mitochondrion	1
mitochondrial envelope	1

Protein interactions and networks

STRING

1123 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
APOO	CHCHD6	Q9BRQ6	993
APOO	MICOS13	Q5XKP0	993
APOO	IMMT	Q16891	989
APOO	CHCHD3	Q9NX63	985
APOO	APOOL	Q6UXV4	984
APOO	MICOS10	Q5TGZ0	939
APOO	CHCHD5	Q9BSY4	857
APOO	MTTP	P55157	837
APOO	SAMM50	Q9Y512	779
APOO	DNAJC11	Q9NVH1	772
APOO	APOA1	P02647	731
APOO	MTX2	O75431	681
APOO	CHCHD10	Q8WYQ3	663
APOO	MTX1	Q13505	649
APOO	APOF	Q13790	549

IntAct

20 interactions, top by confidence:

A	B	Type	Score
TIMMDC1	NDUFS8	psi-mi:“MI:0914”(association)	0.530
APOOL	MTX2	psi-mi:“MI:0914”(association)	0.530
NDUFA4	NUDT19	psi-mi:“MI:0914”(association)	0.350
MICOS13	MTX2	psi-mi:“MI:0914”(association)	0.350
APOOL	MGST3	psi-mi:“MI:0914”(association)	0.350
NDUFA4	NDUFS8	psi-mi:“MI:0914”(association)	0.350
Npc1	ESYT2	psi-mi:“MI:0914”(association)	0.350
DNAJC11	VCP	psi-mi:“MI:0914”(association)	0.350
PARPBP	RPSA2	psi-mi:“MI:0914”(association)	0.350
CENPM	DNM1L	psi-mi:“MI:0914”(association)	0.350
SPG21	GAPDHS	psi-mi:“MI:0914”(association)	0.350
GSX1	YKT6	psi-mi:“MI:0914”(association)	0.350
SLC12A9	PGRMC1	psi-mi:“MI:0914”(association)	0.350
IMMP1L	NUDT19	psi-mi:“MI:2364”(proximity)	0.270
OMA1	HAX1	psi-mi:“MI:2364”(proximity)	0.270
PARL	HAX1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (150): APOO (Affinity Capture-MS), APOO (Affinity Capture-MS), APOO (Affinity Capture-MS), APOO (Affinity Capture-MS), APOO (Affinity Capture-MS), APOO (Proximity Label-MS), APOO (Proximity Label-MS), APOO (Proximity Label-MS), ABCB10 (Proximity Label-MS), ACAD9 (Proximity Label-MS), ACTR2 (Proximity Label-MS), ADCK2 (Proximity Label-MS), AFG3L2 (Proximity Label-MS), AIFM1 (Proximity Label-MS), APOOL (Proximity Label-MS)

ESM2 similar proteins: A1L2P2, A1XQR7, A8E7D3, A8MTT3, L0R6Q1, O48832, O64497, O82803, P11951, P13183, P14790, P24311, P43883, P46270, P80977, Q148H0, Q1LUK1, Q1MTD4, Q1RMH3, Q21154, Q28EM2, Q2ACH7, Q41112, Q4V8S3, Q5BKW8, Q5CZQ0, Q5R987, Q5XFV8, Q5XKP0, Q63ZZ0, Q68EV8, Q7SGT7, Q7YRK0, Q7YRK1, Q810Q5, Q84K90, Q8BH51, Q8BTE5, Q8R404, Q8VCR3

Diamond homologs: Q148H0, Q3SZ27, Q5NVS6, Q5ZK55, Q6UXV4, Q78IK4, Q9BUR5, Q9DCZ4, Q21154

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	27
Likely benign	4
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
976657	NM_024122.5(APOO):c.350T>C (p.Ile117Thr)	Pathogenic

SpliceAI

1875 predictions. Top by Δscore:

Variant	Effect	Δscore
X:23858636:TCTTA:T	donor_loss	1.0000
X:23858637:CTTA:C	donor_loss	1.0000
X:23858638:TTACC:T	donor_loss	1.0000
X:23858639:TAC:T	donor_loss	1.0000
X:23858640:A:C	donor_loss	1.0000
X:23858641:C:CT	donor_loss	1.0000
X:23878860:T:A	donor_gain	1.0000
X:23879035:C:CC	acceptor_gain	1.0000
X:23879042:CAT:C	acceptor_gain	1.0000
X:23879044:T:TC	acceptor_gain	1.0000
X:23907690:TCACC:T	donor_loss	1.0000
X:23907691:CACCT:C	donor_loss	1.0000
X:23907692:ACCTT:A	donor_loss	1.0000
X:23907693:C:T	donor_loss	1.0000
X:23840379:T:C	acceptor_gain	0.9900
X:23840381:T:C	acceptor_gain	0.9900
X:23840381:T:TC	acceptor_gain	0.9900
X:23856378:CTGAC:C	acceptor_gain	0.9900
X:23856381:ACCT:A	acceptor_loss	0.9900
X:23856382:CC:C	acceptor_loss	0.9900
X:23856384:T:C	acceptor_gain	0.9900
X:23856384:T:TC	acceptor_gain	0.9900
X:23856390:CAAAA:C	acceptor_loss	0.9900
X:23858731:AACCT:A	acceptor_loss	0.9900
X:23858732:ACCT:A	acceptor_loss	0.9900
X:23858734:C:CC	acceptor_gain	0.9900
X:23858734:C:G	acceptor_loss	0.9900
X:23858735:T:A	acceptor_loss	0.9900
X:23858737:A:C	acceptor_gain	0.9900
X:23859787:T:TA	donor_gain	0.9900

AlphaMissense

1269 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:23868619:C:T	G121D	0.991
X:23868610:C:T	G124E	0.990
X:23858685:G:T	A146D	0.989
X:23868629:C:G	G118R	0.989
X:23858710:A:C	Y138D	0.988
X:23868611:C:G	G124R	0.988
X:23868611:C:T	G124R	0.988
X:23868628:C:T	G118D	0.988
X:23858682:G:T	A147D	0.987
X:23858692:C:G	G144R	0.987
X:23858692:C:T	G144R	0.987
X:23868637:C:T	G115D	0.987
X:23868620:C:G	G121R	0.985
X:23856355:C:G	G170R	0.984
X:23868622:G:T	A120D	0.979
X:23858667:G:A	P152L	0.978
X:23858691:C:T	G144E	0.978
X:23878949:C:G	R68P	0.978
X:23868634:A:T	V116D	0.977
X:23868638:C:G	G115R	0.977
X:23858668:G:A	P152S	0.976
X:23858667:G:T	P152Q	0.975
X:23858659:C:G	A155P	0.974
X:23858683:C:G	A147P	0.973
X:23868640:A:T	L114H	0.972
X:23858668:G:T	P152T	0.971
X:23858712:A:T	V137E	0.971
X:23858668:G:C	P152A	0.970
X:23858700:C:T	G141D	0.970
X:23858720:C:A	K134N	0.970

dbSNP variants (sampled 300 via entrez): RS1000055829 (X:23881142 T>C), RS1000121138 (X:23889201 T>C), RS1000125879 (X:23883173 C>T), RS1000131447 (X:23858426 T>C), RS1000187476 (X:23889930 G>A,C), RS1000225210 (X:23834017 A>T), RS1000247376 (X:23902169 T>C), RS1000257281 (X:23888765 G>A), RS1000437288 (X:23842561 T>G), RS1000457653 (X:23887383 G>A), RS1000473660 (X:23851445 G>A), RS1000487341 (X:23887653 C>G,T), RS1000593364 (X:23887060 A>G,T), RS1000626572 (X:23866562 G>C), RS1000660538 (X:23833648 C>A)

Disease associations

OMIM: gene MIM:300753 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial disease	Moderate	X-linked

Mondo (2): lactic acidosis (MONDO:0006040), mitochondrial disease (MONDO:0044970)

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D000140	Acidosis, Lactic	C18.452.076.176.180

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 methylation, increases expression	3
bisphenol A	decreases methylation, affects cotreatment, decreases expression	2
sodium arsenite	increases expression, decreases expression	2
bisphenol S	affects expression, increases methylation	2
Benzo(a)pyrene	increases expression, increases methylation	2
bisphenol F	affects cotreatment, decreases expression	1
benzo(e)pyrene	increases methylation	1
beta-methylcholine	affects expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Arsenic	affects methylation	1
Cisplatin	affects cotreatment, increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Methapyrilene	increases methylation	1
Plant Extracts	affects cotreatment, increases expression	1
Tretinoin	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Cyclosporine	increases expression	1
Acrylamide	increases expression	1
Particulate Matter	decreases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SC98	HAP1 APOO (-) 1	Cancer cell line	Male
CVCL_SC99	HAP1 APOO (-) 2	Cancer cell line	Male
CVCL_SD00	HAP1 APOO (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03351998	PHASE4	COMPLETED	Impact of Statin Therapy on Muscle Mitochondrial Function and Aerobic Capacity
NCT00202228	PHASE4	COMPLETED	Lactate Metabolism Study in HIV Infected Persons
NCT01354652	PHASE4	TERMINATED	Lactic Acidosis During Entecavir(ETV)Treatment
NCT00432744	PHASE3	COMPLETED	Phase III Trial of Coenzyme Q10 in Mitochondrial Disease
NCT05162768	PHASE3	COMPLETED	Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD)
NCT06451757	PHASE3	RECRUITING	KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
NCT00004490	PHASE3	COMPLETED	Phase III Randomized Study of Sodium Dichloroacetate in Children With Congenital Lactic Acidosis
NCT02398201	PHASE2	COMPLETED	A Study of Bezafibrate in Mitochondrial Myopathy
NCT02473445	PHASE2	TERMINATED	A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease
NCT02500628	PHASE2	COMPLETED	Heart Rate Variability in Response to Metformin Challenge
NCT02805790	PHASE2	COMPLETED	Safety, Tolerability, Efficacy of MTP-131 for Treatment of Mitochondrial Disease in Subjects From the MMPOWER Study
NCT02909400	PHASE2	COMPLETED	The KHENERGY Study
NCT02976038	PHASE2	TERMINATED	Open-Label Extension Trial to Characterize the Long-term Safety and Tolerability of Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM)
NCT03177798	PHASE2	COMPLETED	Mitochondria and Chronic Kidney Disease
NCT03866954	PHASE2	WITHDRAWN	Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal Encephalomyopathy
NCT04165239	PHASE2	COMPLETED	The KHENERGYZE Study
NCT04604548	PHASE2	COMPLETED	The KHENEREXT Study
NCT04802707	PHASE2	RECRUITING	Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
NCT04846036	PHASE2	SUSPENDED	The KHENERGYC Study
NCT05650229	PHASE2	RECRUITING	Efficacy of KL1333 in Adult Patients With Primary Mitochondrial Disease
NCT05972954	PHASE2	COMPLETED	OMT-28 in Patients With Primary Mitochondrial Disease (PMD) (PMD-OPTION)
NCT06017869	PHASE2	RECRUITING	Evaluate the Safety and Therapeutic Effects of a Single Intravenous Infusion (IV) of Autologous CD34+ Cells Enriched With Allogenic Placenta-derived Mitochondria in Patients With a Diagnosis of Pearson Syndrome (PS)
NCT07514338	PHASE2	NOT_YET_RECRUITING	Open Label Extension to Assess Long Term Safety and Efficacy of KL1333 in Patients With Primary Mitochondrial Disease
NCT00004493	PHASE2	COMPLETED	Phase II Pilot Randomized Study of Sodium Dichloroacetate in Patients With Congenital Lactic Acidemia
NCT01973504	PHASE2	WITHDRAWN	Phase 2c Dose Comparison Study of MP4OX in Trauma
NCT02974257	PHASE2	TERMINATED	Thiamine vs. Placebo to Increase Oxygen Consumption After Cardiac Arrest
NCT00060515	PHASE1	TERMINATED	RG2133 (2’,3’,5’-Tri-O-Acetyluridine) in Mitochondrial Disease
NCT02348125	PHASE1	UNKNOWN	Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)?
NCT02544217	PHASE1	COMPLETED	A Dose-escalating Clinical Trial With KH176
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
NCT04643249	PHASE1	COMPLETED	Drug-drug Interaction Study of KL1333 in Healthy Subjects
NCT05241262	PHASE1	RECRUITING	Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels
NCT05569122	PHASE1	RECRUITING	Applying pGz in Mitochondrial Disease
NCT06819683	PHASE1	RECRUITING	Validation of Nanosensor Oxygen Measurement
NCT07258667	PHASE1	NOT_YET_RECRUITING	Pilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber’s Hereditary Optic Neuropathy
NCT03122678	PHASE1	WITHDRAWN	Thiamine Supplementation in Patients With Septic Shock
NCT04378075	PHASE2/PHASE3	TERMINATED	A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy
NCT01642056	PHASE1/PHASE2	COMPLETED	EPI-743 for Metabolism or Mitochondrial Disorders
NCT03384420	PHASE1/PHASE2	COMPLETED	A Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD in Pediatric Patients With Pearson Syndrome