OXSM

Summary

OXSM (3-oxoacyl-ACP synthase, mitochondrial, HGNC:26063) is a protein-coding gene on chromosome 3p24.2, encoding 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial (Q9NWU1). May play a role in the biosynthesis of lipoic acid as well as longer chain fatty acids required for optimal mitochondrial function. It is a selective cancer dependency (DepMap: 19.9% of cell lines).

This gene encodes a beta-ketoacyl synthetase. The encoded enzyme is required for elongation of fatty acid chains in the mitochondria. Alternatively spliced transcript variants have been described.

Source: NCBI Gene 54995 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 66 total — 1 pathogenic
• Cancer dependency (DepMap): dependent in 19.9% of screened cell lines
• MANE Select transcript: NM_017897

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26063
Approved symbol	OXSM
Name	3-oxoacyl-ACP synthase, mitochondrial
Location	3p24.2
Locus type	gene with protein product
Status	Approved
Aliases	KS, FLJ20604, FASN2D, CEM1
Ensembl gene	ENSG00000151093
Ensembl biotype	protein_coding
OMIM	610324
Entrez	54995

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 10 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000280701, ENST00000420173, ENST00000428266, ENST00000448177, ENST00000449808, ENST00000452098, ENST00000460195, ENST00000464688, ENST00000855993, ENST00000855994, ENST00000855995, ENST00000935184, ENST00000942860, ENST00000942861

RefSeq mRNA: 2 — MANE Select: NM_017897 NM_001145391, NM_017897

CCDS: CCDS2643, CCDS46780

Canonical transcript exons

ENST00000280701 — 3 exons

Exon	Start	End
ENSE00000997590	25790990	25791997
ENSE00001795881	25790090	25790147
ENSE00003850102	25794092	25794531

Expression profiles

Bgee: expression breadth ubiquitous, 271 present calls, max score 89.16.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.6205 / max 80.9712, expressed in 1752 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
35760	7.9624	1748
202708	0.6391	420
35759	0.0190	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	89.16	gold quality
tongue squamous epithelium	UBERON:0006919	88.79	gold quality
left testis	UBERON:0004533	88.35	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.27	gold quality
right testis	UBERON:0004534	88.07	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.39	gold quality
sperm	CL:0000019	87.36	gold quality
mucosa of transverse colon	UBERON:0004991	87.19	gold quality
testis	UBERON:0000473	87.17	gold quality
body of pancreas	UBERON:0001150	86.69	gold quality
rectum	UBERON:0001052	86.67	gold quality
islet of Langerhans	UBERON:0000006	86.55	gold quality
gingival epithelium	UBERON:0001949	86.54	gold quality
gastrocnemius	UBERON:0001388	86.45	gold quality
biceps brachii	UBERON:0001507	86.38	gold quality
right adrenal gland	UBERON:0001233	86.28	gold quality
liver	UBERON:0002107	86.22	gold quality
muscle of leg	UBERON:0001383	86.15	gold quality
oocyte	CL:0000023	86.01	gold quality
right adrenal gland cortex	UBERON:0035827	86.01	gold quality
male germ cell	CL:0000015	85.97	gold quality
pancreas	UBERON:0001264	85.88	gold quality
deltoid	UBERON:0001476	85.85	gold quality
muscle organ	UBERON:0001630	85.59	gold quality
skeletal muscle organ	UBERON:0014892	85.59	gold quality
metanephros cortex	UBERON:0010533	85.56	gold quality
esophagus squamous epithelium	UBERON:0006920	85.55	gold quality
heart left ventricle	UBERON:0002084	85.47	gold quality
left adrenal gland	UBERON:0001234	85.36	gold quality
cardiac ventricle	UBERON:0002082	85.28	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.29
E-MTAB-7303	no	644.39

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 19.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• characterization of the human mitochondrial beta-ketoacyl synthase (PMID:15668256)
• Knockdown of heat shock protein family D member 1 (HSPD1) promotes proliferation and migration of ovarian cancer cells via disrupting the stability of mitochondrial 3-oxoacyl-ACP synthase (OXSM). (PMID:37087461)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	oxsm	ENSDARG00000098855
mus_musculus	Oxsm	ENSMUSG00000021786
rattus_norvegicus	Oxsm	ENSRNOG00000005993
drosophila_melanogaster	CG12170	FBGN0037356
caenorhabditis_elegans	F10G8.9	WBGENE00008667

Paralogs (1): FASN (ENSG00000169710)

Protein

Protein identifiers

3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial — Q9NWU1 (reviewed: Q9NWU1)

Alternative names: Beta-ketoacyl-ACP synthase

All UniProt accessions (4): Q9NWU1, C9J2G3, C9JQQ2, F8VNS3

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in the biosynthesis of lipoic acid as well as longer chain fatty acids required for optimal mitochondrial function.

Subcellular location. Mitochondrion.

Tissue specificity. Widely expressed. Higher expression in heart, skeletal muscle, liver and kidney which contain high levels of active mitochondria.

Activity regulation. Inhibited by cerulenin.

Pathway. Lipid metabolism; fatty acid biosynthesis.

Similarity. Belongs to the thiolase-like superfamily. Beta-ketoacyl-ACP synthases family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NWU1-1	1	yes
Q9NWU1-2	2

RefSeq proteins (2): NP_001138863, NP_060367* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000794	Beta-ketoacyl_synthase	Family
IPR014030	KAS_N	Domain
IPR014031	KAS_C	Domain
IPR016039	Thiolase-like	Homologous_superfamily
IPR017568	3-oxoacyl-ACP_synth-2	Family
IPR018201	Ketoacyl_synth_AS	Active_site
IPR020841	PKS_Beta-ketoAc_synthase_dom	Domain

Pfam: PF00109, PF02801

Enzyme classification (BRENDA):

• EC 2.3.1.41 — beta-ketoacyl-[acyl-carrier-protein] synthase I (BRENDA: 39 organisms, 226 substrates, 84 inhibitors, 63 Km, 36 kcat entries)

Substrate kinetics (BRENDA)

30 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
LAUROYL-ACP	0.0032–0.06	6
ACETYL-[ACYL-CARRIER PROTEIN]	0.019–0.05	5
MALONYL-COA	0.004–0.153	5
ACETYL-COA	0.0024–0.0403	3
DECANOYL-[ACYL-CARRIER PROTEIN]	0.0018–0.0133	3
MALONYL-[ACYL-CARRIER PROTEIN]	0.0037–0.025	3
BUTYRYL-COA	0.0007–0.0023	2
CIS-3-DECENOYL-[ACYL-CARRIER PROTEIN]	0.012–0.014	2
CIS-9-HEXADECENOYL-[ACYL-CARRIER PROTEIN]	0.017–0.138	2
DODECANOYL-[ACYL-CARRIER PROTEIN]	0.0023–0.0095	2
HEXANOYL-[ACYL-CARRIER PROTEIN]	0.0019–0.0075	2
ISOBUTYRYL-COA	0.0003–0.0004	2
MALONYL-ACP	0.0058–0.0115	2
MALONYL-PHOSPHOPANTETHEINE-14-MER	0.0086–0.0158	2
MALONYL-PHOSPHOPANTETHEINE-16-MER	0.0051–0.029	2

Catalyzed reactions (Rhea), 7 shown:

• a fatty acyl-[ACP] + malonyl-[ACP] + H(+) = a 3-oxoacyl-[ACP] + holo-[ACP] + CO2 (RHEA:22836)
• butanoyl-[ACP] + malonyl-[ACP] + H(+) = 3-oxohexanoyl-[ACP] + holo-[ACP] + CO2 (RHEA:41820)
• hexanoyl-[ACP] + malonyl-[ACP] + H(+) = 3-oxooctanoyl-[ACP] + holo-[ACP] + CO2 (RHEA:41836)
• octanoyl-[ACP] + malonyl-[ACP] + H(+) = 3-oxodecanoyl-[ACP] + holo-[ACP] + CO2 (RHEA:41852)
• decanoyl-[ACP] + malonyl-[ACP] + H(+) = 3-oxododecanoyl-[ACP] + holo-[ACP] + CO2 (RHEA:41868)
• dodecanoyl-[ACP] + malonyl-[ACP] + H(+) = 3-oxotetradecanoyl-[ACP] + holo-[ACP] + CO2 (RHEA:41884)
• tetradecanoyl-[ACP] + malonyl-[ACP] + H(+) = 3-oxohexadecanoyl-[ACP] + holo-[ACP] + CO2 (RHEA:41900)

UniProt features (53 total): helix 21, strand 17, modified residue 5, active site 3, turn 2, transit peptide 1, chain 1, splice variant 1, sequence variant 1, domain 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
2IWZ	X-RAY DIFFRACTION	1.65
2C9H	X-RAY DIFFRACTION	1.8
2IWY	X-RAY DIFFRACTION	2.06
9N51	X-RAY DIFFRACTION	2.31
9N50	X-RAY DIFFRACTION	2.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NWU1-F1	93.92	0.91

Functional residue map

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

Catalytic / active sites (3): 209 (for beta-ketoacyl synthase activity); 348 (for beta-ketoacyl synthase activity); 385 (for beta-ketoacyl synthase activity)

Post-translational modifications (5): 174, 109, 109, 113, 174

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9837999	Mitochondrial protein degradation

MSigDB gene sets: 100 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_SHORT_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_FATTY_ACID_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, GOBP_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS

GO Biological Process (6): fatty acid biosynthetic process (GO:0006633), acyl-CoA metabolic process (GO:0006637), short-chain fatty acid biosynthetic process (GO:0051790), medium-chain fatty acid biosynthetic process (GO:0051792), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631)

GO Molecular Function (4): 3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315), transferase activity (GO:0016740), acyltransferase activity (GO:0016746), acyltransferase activity, transferring groups other than amino-acyl groups (GO:0016747)

GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
fatty acid biosynthetic process	2
cytoplasm	2
fatty acid metabolic process	1
lipid biosynthetic process	1
monocarboxylic acid biosynthetic process	1
nucleoside phosphate metabolic process	1
sulfur compound metabolic process	1
purine-containing compound metabolic process	1
short-chain fatty acid metabolic process	1
medium-chain fatty acid metabolic process	1
primary metabolic process	1
lipid metabolic process	1
monocarboxylic acid metabolic process	1
acyltransferase activity, transferring groups other than amino-acyl groups	1
catalytic activity	1
transferase activity	1
acyltransferase activity	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

3038 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OXSM	NDUFAB1	O14561	971
OXSM	MECR	Q9BV79	779
OXSM	MCAT	Q8IVS2	711
OXSM	HSD17B8	Q92506	596
OXSM	CBR4	Q8N4T8	576
OXSM	LIPT1	Q9Y234	557
OXSM	ACACA	Q13085	549
OXSM	COASY	Q13057	532
OXSM	ACOT8	O14734	495
OXSM	ACLY	P53396	491
OXSM	ACACB	O00763	490
OXSM	TPI1	P00938	482
OXSM	SCD	O00767	482
OXSM	HADH	Q16836	479
OXSM	FASN	P49327	473

IntAct

36 interactions, top by confidence:

A	B	Type	Score
LYRM2	NDUFAB1	psi-mi:“MI:0914”(association)	0.730
SOX2	PDLIM1	psi-mi:“MI:0914”(association)	0.530
GTF2B	CST4	psi-mi:“MI:0914”(association)	0.530
NDUFAB1	GLDC	psi-mi:“MI:0914”(association)	0.530
DBF4B	CDC7	psi-mi:“MI:0914”(association)	0.530
TMEM184A	SLC33A1	psi-mi:“MI:0914”(association)	0.530
Junb	RGPD3	psi-mi:“MI:0914”(association)	0.350
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
VAMP4	NBAS	psi-mi:“MI:0914”(association)	0.350
NDUFAB1	SDHB	psi-mi:“MI:0914”(association)	0.350
ATF6B	AK4	psi-mi:“MI:0914”(association)	0.350
ANLN	UBA6	psi-mi:“MI:0914”(association)	0.350
SERBP1	UBA6	psi-mi:“MI:0914”(association)	0.350
FAM81B	UBA6	psi-mi:“MI:0914”(association)	0.350
DNAAF4	RAP1BL	psi-mi:“MI:0914”(association)	0.350
DNAJB6	SCAMP1	psi-mi:“MI:0914”(association)	0.350
CASQ2	KCNN4	psi-mi:“MI:0914”(association)	0.350
CHRNA7	NME2P1	psi-mi:“MI:0914”(association)	0.350
NUDT13	PLPBP	psi-mi:“MI:0914”(association)	0.350
NR0B2	LDLRAP1	psi-mi:“MI:0914”(association)	0.350
SLC25A25	HAX1	psi-mi:“MI:0914”(association)	0.350
FECH	GTPBP10	psi-mi:“MI:0914”(association)	0.350
	VWA8	psi-mi:“MI:2364”(proximity)	0.270
MGST3	VWA8	psi-mi:“MI:2364”(proximity)	0.270
PDK1	VWA8	psi-mi:“MI:2364”(proximity)	0.270
APOBEC3C	CNOT1	psi-mi:“MI:2364”(proximity)	0.270
BUD13	RPSA2	psi-mi:“MI:2364”(proximity)	0.270
HNRNPC	SBNO1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (49): OXSM (Affinity Capture-MS), OXSM (Affinity Capture-MS), OXSM (Affinity Capture-MS), OXSM (Affinity Capture-MS), DHRS4 (Co-fractionation), OXSM (Affinity Capture-MS), OXSM (Affinity Capture-MS), OXSM (Affinity Capture-MS), OXSM (Affinity Capture-MS), OXSM (Affinity Capture-MS), OXSM (Affinity Capture-MS), OXSM (Affinity Capture-MS), LARS (Affinity Capture-MS), HNRNPM (Affinity Capture-MS), OXSM (Proximity Label-MS)

ESM2 similar proteins: A0KEL0, A1TZR8, A4STF3, A4WFX5, A6TGM3, A6VVM8, A7MQM5, A8G8D0, B5FEW7, C6DI66, O32177, O94297, P06230, P07871, P09110, P0A2H7, P0A2H8, P0A953, P0A954, P12276, P12785, P19096, P36189, P43710, P49327, P57193, P9WET3, Q02K94, Q07ZP7, Q0CZH1, Q0VCA7, Q12P12, Q2SD23, Q3K9D9, Q489W4, Q57HM7, Q5E8X7, Q5PKQ3, Q5QXH8, Q6DAP6

Diamond homologs: A0A1B3PEI6, A0A1B3PEI8, A0A5C1RDA3, A7Z4X8, A7Z4Y0, B4ER97, B4U7T6, D7UQ44, O31782, O34787, O67611, P23238, P40806, P71019, P73242, P96284, P9WET0, P9WQE0, P9WQE1, Q05470, Q0VCA7, Q2T4P1, Q7TXL6, Q9D404, Q9L9F8, Q9NKW1, Q9NWU1, Q9R9J1, A0A0D2YG10, A0A0U5GK88, A0A0Y0M151, A0A1L9WQM9, A0A2L0P0K3, A0A2Z5XAL7, A0A345BJP0, A0A3G9K3K9, A0A455LXK0, A0A481WR96, A0A4P8DJU2, A1KQG0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	59
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
4070964	NM_017897.3(OXSM):c.1190T>A (p.Phe397Tyr)	Pathogenic

SpliceAI

587 predictions. Top by Δscore:

Variant	Effect	Δscore
3:25791996:AGG:A	donor_loss	1.0000
3:25791999:T:A	donor_loss	1.0000
3:25794091:GGT:G	acceptor_gain	1.0000
3:25794091:GGTGT:G	acceptor_gain	1.0000
3:25790147:GGTAT:G	donor_loss	0.9900
3:25790148:G:GA	donor_loss	0.9900
3:25791107:G:GT	donor_gain	0.9900
3:25794087:ATTAG:A	acceptor_gain	0.9900
3:25794088:TTAG:T	acceptor_loss	0.9900
3:25794090:A:AG	acceptor_gain	0.9900
3:25794091:G:GG	acceptor_gain	0.9900
3:25794091:G:GT	acceptor_loss	0.9900
3:25790134:T:TA	donor_gain	0.9800
3:25790135:A:AA	donor_gain	0.9800
3:25791758:T:A	acceptor_gain	0.9800
3:25794087:A:AG	acceptor_gain	0.9800
3:25794090:AG:A	acceptor_gain	0.9800
3:25794090:AGGT:A	acceptor_gain	0.9800
3:25794091:GG:G	acceptor_gain	0.9800
3:25794091:GGTG:G	acceptor_gain	0.9800
3:25790136:GCCCC:G	donor_gain	0.9700
3:25791093:T:G	donor_gain	0.9700
3:25791998:G:GG	donor_gain	0.9700
3:25792004:A:G	donor_gain	0.9700
3:25794088:T:G	acceptor_gain	0.9700
3:25790117:TGGAG:T	donor_gain	0.9600
3:25791262:ATAAG:A	donor_gain	0.9600
3:25794088:TTAGG:T	acceptor_gain	0.9600
3:25794089:TAGGT:T	acceptor_gain	0.9600
3:25783050:T:TA	donor_gain	0.9500

AlphaMissense

2959 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:25791762:T:C	F248L	0.998
3:25791764:T:A	F248L	0.998
3:25791764:T:G	F248L	0.998
3:25794095:T:G	C327W	0.998
3:25794453:T:C	F447L	0.998
3:25794455:T:A	F447L	0.998
3:25794455:T:G	F447L	0.998
3:25791559:T:A	V180D	0.997
3:25791578:T:A	N186K	0.997
3:25791578:T:G	N186K	0.997
3:25791763:T:C	F248S	0.996
3:25794180:G:C	D356H	0.996
3:25791597:A:C	S193R	0.995
3:25791599:C:A	S193R	0.995
3:25791599:C:G	S193R	0.995
3:25791663:G:C	A215P	0.995
3:25791760:G:A	G247E	0.995
3:25791840:T:C	F274L	0.995
3:25791842:T:A	F274L	0.995
3:25791842:T:G	F274L	0.995
3:25794181:A:C	D356A	0.995
3:25794254:G:C	K380N	0.995
3:25794254:G:T	K380N	0.995
3:25794265:G:A	G384E	0.995
3:25794269:T:A	H385Q	0.995
3:25794269:T:G	H385Q	0.995
3:25791396:G:C	A126P	0.994
3:25791721:G:A	G234E	0.994
3:25791819:T:C	F267L	0.994
3:25791821:T:A	F267L	0.994

dbSNP variants (sampled 300 via entrez): RS1000069284 (3:25793271 G>A), RS1000290296 (3:25789420 G>A,C,T), RS1000412496 (3:25789812 C>T), RS1001016353 (3:25794615 A>G), RS1001288525 (3:25793746 A>G), RS1001634938 (3:25793435 A>G,T), RS1002352678 (3:25788581 G>A), RS1002403500 (3:25788914 G>A,C), RS1002622556 (3:25793573 T>G), RS1002737144 (3:25793885 A>G), RS1003354346 (3:25789960 G>A,C,T), RS1003757211 (3:25792569 T>C), RS1004521287 (3:25792520 C>G), RS1005156590 (3:25793768 A>G), RS1005303559 (3:25793853 G>C,T)

Disease associations

OMIM: gene MIM:610324 | disease phenotypes: MIM:143890

GenCC curated gene-disease

Mondo (1): hypercholesterolemia, familial, 1 (MONDO:0007750)

Orphanet (1): Homozygous familial hypercholesterolemia (Orphanet:391665)

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

32 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression, increases expression	2
FR900359	decreases phosphorylation	1
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
chloroacetaldehyde	increases expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
sodium arsenite	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
ferrous chloride	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
ICG 001	decreases expression	1
Sunitinib	increases expression	1
Cidofovir	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Amiodarone	increases expression	1
Benzene	increases expression	1
Carbamazepine	affects expression	1
Cisplatin	increases expression	1
Formaldehyde	decreases expression	1
Oxygen	increases expression	1
Thiram	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	increases expression	1
Okadaic Acid	increases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06231459	PHASE4	COMPLETED	Expression of Pro- and Anti-inflammatory Cytokines During Anti-PCSK9 in Familial Hypercholesterolemia
NCT00000594	PHASE3	COMPLETED	NHLBI Type II Coronary Intervention Study
NCT00092833	PHASE3	TERMINATED	Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED)
NCT00134485	PHASE3	COMPLETED	Study To Evaluate The Safety And Efficacy Of Torcetrapib/Atorvastatin In Subjects With Familial Hypercholerolemia
NCT00134511	PHASE3	COMPLETED	Study To Evaluate The Effect Of Torcetrapib/Atorvastatin In Patients With Genetic High Cholesterol Disorder
NCT00136981	PHASE3	COMPLETED	Carotid B-Mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrpib/Atorvastatin to Atorvastatin Alone.
NCT00384293	PHASE3	TERMINATED	Carotid IMT (Intima Media Thickening) Study (0524A-041)(TERMINATED)
NCT01524289	PHASE3	COMPLETED	Study to Assess the Tolerability and Efficacy of Anacetrapib (MK-0859) Co-Administered With Statin in Participants With Heterozygous Familial Hypercholesterolemia (MK-0859-020)
NCT00280995	PHASE2	COMPLETED	Dose-escalating Safety Study of ISIS 301012 in Homozygous Familial Hypercholesterolemia Subjects on Lipid Lowering Therapy
NCT00281008	PHASE2	COMPLETED	Study of ISIS 301012 (Mipomersen) in Heterozygous Familial Hypercholesterolemia Subjects on Lipid Lowering Therapy
NCT01375751	PHASE2	COMPLETED	Reduction of Low-Density Lipoprotein Cholesterol (LDL-C) With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder Study
NCT00515307	PHASE1	COMPLETED	Bone Marrow Stem Cells as a Source of Allogenic Hepatocyte Transplantation in Homozygous Familial Hypercholesterolemia
NCT01583647	PHASE1	TERMINATED	A Study of Extended-release (ER) Niacin/Laropiprant in Adolescents With Heterozygous Familial Hypercholesterolemia (MK-0524A-158)
NCT00005168	Not specified	COMPLETED	Hyperapo B and Coronary Heart Disease
NCT01753232	Not specified	COMPLETED	Safety and Efficacy of the DALI LDL-adsorber and MONET Lipoprotein Filter
NCT03018678	Not specified	COMPLETED	Screening Protocol for a Gene Therapy Trial in Subjects With Homozygous Familial Hypercholesterolemia
NCT03110432	Not specified	COMPLETED	Prospective German Very High Cardiovascular Risk Patients Dyslipidemia Treatment Indication Registry
NCT03795038	Not specified	COMPLETED	Comparison of the Plasma Lipoprotein Apheresis Systems DIAMED and MONET vs. the Whole Blood Apheresis System DALI
NCT03989167	Not specified	RECRUITING	Clinical Decision Support for Familial Hypercholesterolemia
NCT04073797	Not specified	RECRUITING	PET Imaging of Inflammation and Lipid Lowering Study
NCT04118348	Not specified	COMPLETED	Evaluating the Efficacy of Pediatric Lipid Screening Alerts
NCT04313270	Not specified	UNKNOWN	Subclinical Atherosclerosis in Patients With Familial Hypercholesterolemia Treated With Evolocumab®
NCT04526457	Not specified	COMPLETED	Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia
NCT04656028	Not specified	ACTIVE_NOT_RECRUITING	Genetic Testing and Motivational Counseling for FH
NCT04722068	Not specified	COMPLETED	Regeneron 1331 Kinetics Sub-Study HoFH
NCT04837638	Not specified	UNKNOWN	Diet Quality and Coronary Artery Calcification in Adults With Heterozygous Familial Hypercholesterolemia
NCT06555120	Not specified	RECRUITING	Screening for Familial Hypercholesterolemia in Children
NCT07543731	Not specified	NOT_YET_RECRUITING	A Real-World Study of Long-Term Adherence and Persistence to Inclisiran, Evolocumab, and Alirocumab