HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
OXSM
3-oxoacyl-ACP synthase, mitochondrial
Chromosome 3 · 3p24.2
NCBI Gene: 54995Ensembl: ENSG00000151093.9HGNC: HGNC:26063UniProt: B4E3Q7
28PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
3-oxoacyl-[acyl-carrier-protein] synthase activitymitochondrionshort-chain fatty acid biosynthetic processmedium-chain fatty acid biosynthetic processcongenital disorder of deglycosylationgenetic disordercongenital disorder of deglycosylation 1neurodegenerative disease
✦AI Summary

OXSM (3-oxoacyl-ACP synthase, mitochondrial) is a mitochondrial ketosynthase that catalyzes fatty acid biosynthesis. The enzyme functions as a key component of mitochondrial fatty acid synthesis (mtFAS), capable of synthesizing both the lipoic acid precursor octanoate and longer-chain fatty acids 1. OXSM operates through transacylation and condensation reactions with mitochondrial acyl carrier protein (mACP), with detailed structural studies revealing conserved gating mechanisms that regulate substrate selectivity 1. Mechanistically, OXSM activity is regulated by post-translational modifications and protein stability. HSP60 (HSPD1) directly interacts with OXSM to maintain its protein stability; HSP60 knockdown destabilizes OXSM and reduces lipoic acid synthesis 2. Additionally, lactylated PCK2 competitively inhibits Parkin-mediated ubiquitination of OXSM, thereby modulating mtFAS and bioenergetic metabolism during hepatic ischemia-reperfusion injury 3. Clinically, OXSM dysregulation associates with multiple disease states. In oral squamous cell carcinoma, OXSM is upregulated via enhancer-driven transcriptional activation by CBFB, promoting metastatic progression and lipid synthesis 4. In ovarian cancer, OXSM downregulation promotes proliferation and migration 2. OXSM serves as a diagnostic biomarker in rheumatoid arthritis 5, bladder cancer 6, and kidney stone susceptibility 7, suggesting broader metabolic dysfunction in disease pathogenesis.

Sources cited
1
OXSM catalyzes long-chain fatty acid biosynthesis through transacylation and condensation steps with mACP, with structural mechanisms regulating substrate selectivity
PMID: 40891531
2
HSP60 (HSPD1) interacts with OXSM to maintain its protein stability; HSPD1 knockdown destabilizes OXSM and impairs lipoic acid synthesis
PMID: 37087461
3
Lactylated PCK2 inhibits Parkin-mediated polyubiquitination of OXSM, modulating mitochondrial fatty acid synthesis during hepatic ischemia-reperfusion injury
PMID: 39853940
4
OXSM is upregulated in metastatic oral squamous cell carcinoma via CBFB-regulated enhancers, promoting cell proliferation, invasion, and lipid synthesis
PMID: 35428233
5
OXSM downregulation promotes proliferation and migration of ovarian cancer cells via disrupted protein stability
PMID: 37087461
6
OXSM is identified as a diagnostic biomarker for rheumatoid arthritis with high accuracy (AUC=0.982), suggesting roles in disease-associated metabolic dysfunction
PMID: 40082645
7
OXSM is identified as one of four critical mitochondria-related diagnostic genes for bladder cancer using machine learning analysis
PMID: 38654047
8
OXSM genetic overexpression is causally associated with increased kidney stone risk based on proteome-wide Mendelian randomization analysis
PMID: 39530187
Disease Associationsⓘ20
congenital disorder of deglycosylationOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.41Moderate
congenital disorder of deglycosylation 1Open Targets
0.40Weak
neurodegenerative diseaseOpen Targets
0.29Weak
bronchial diseaseOpen Targets
0.13Weak
placenta praeviaOpen Targets
0.12Weak
DNA methylationOpen Targets
0.11Weak
insomniaOpen Targets
0.10Weak
gliomaOpen Targets
0.08Suggestive
deafnessOpen Targets
0.06Suggestive
glioblastoma multiformeOpen Targets
0.06Suggestive
intracranial hemorrhageOpen Targets
0.05Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.05Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.05Suggestive
benign adult familial myoclonic epilepsyOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
hearing loss, autosomal recessiveOpen Targets
0.04Suggestive
interstitial lung diseaseOpen Targets
0.04Suggestive
obesityOpen Targets
0.04Suggestive
primary biliary cirrhosisOpen Targets
0.03Suggestive
Pathogenic Variants1
NM_017897.3(OXSM):c.1190T>A (p.Phe397Tyr)Pathogenic
Hypercholesterolemia, familial, 1
☆☆☆☆2022→ Residue 397
View on ClinVar ↗
Related Genes
HSD17B8Protein interaction98%MECRProtein interaction98%LIPT1Protein interaction98%FASNProtein interaction96%PALB2Protein interaction96%ELOVL6Protein interaction92%
Tissue Expression6 tissues
Liver
100%
Heart
69%
Lung
26%
Ovary
23%
Bone Marrow
21%
Brain
13%
Gene Interaction Network
Click a node to explore
OXSMHSD17B8MECRLIPT1FASNPALB2ELOVL6
PROTEIN STRUCTURE
Preparing viewer…
PDB2IWZ · 1.65 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.45–0.96]
RankingsWhere OXSM stands among ~20K protein-coding genes
  • #12,406of 20,598
    Most Researched28
  • #5,279of 5,498
    Most Pathogenic Variants1
  • #8,988of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedOXSM
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The Lactate-Primed KAT8‒PCK2 Axis Exacerbates Hepatic Ferroptosis During Ischemia/Reperfusion Injury by Reprogramming OXSM-Dependent Mitochondrial Fatty Acid Synthesis.
PMID: 39853940
Adv Sci (Weinh) · 2025
1.00
2
Identification and validation of transcription factor-driven enhancers of genes related to lipid metabolism in metastatic oral squamous cell carcinomas.
PMID: 35428233
BMC Oral Health · 2022
0.90
3
Role of Human Mitochondrial Ketosynthase in Long-Chain Fatty Acid Biosynthesis.
PMID: 40891531
J Am Chem Soc · 2025
0.80
4
Effect of Tai Chi on Markers of Oxidative Stress: Systematic Review and Meta-Analysis.
PMID: 33810466
Int J Environ Res Public Health · 2021
0.70
5
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
J Ovarian Res · 2023
0.60