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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PGS1
phosphatidylglycerophosphate synthase 1
Chromosome 17 · 17q25.3
NCBI Gene: 9489Ensembl: ENSG00000087157.20HGNC: HGNC:30029UniProt: Q32NB8
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulummitochondrionCDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activityphosphatidylglycerol biosynthetic processosteoarthritis, hipmetabolic syndromefamilial lipoprotein lipase deficiencyalcohol drinking
✦AI Summary

PGS1 (phosphatidylglycerophosphate synthase 1) is a key enzyme in mitochondrial phospholipid biosynthesis, specifically functioning in the synthesis of phosphatidylglycerol and cardiolipin 1. The enzyme catalyzes CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity and localizes to the mitochondrial inner membrane and matrix 2. PGS1 forms oligomers and associates with other cardiolipin biosynthesis enzymes including CLS1 and PTPMT1, creating a cardiolipin-synthesizing scaffold within the mitochondrial inner membrane 2. This complex interacts with cardiolipin-binding mitochondrial proteins such as prohibitins, stomatin-like protein 2, and MICOS components, suggesting coordinated regulation of cardiolipin metabolism and mitochondrial membrane organization 2. Disease relevance includes involvement in septic cardiomyopathy, where PGS1 is identified as a mitochondria-related hub gene associated with immune infiltration patterns 3. PGS1 depletion can modulate mitochondrial dynamics by reducing cardiolipin content and inhibiting mitochondrial fission, which may improve respiratory defects in OPA1-deficient cells 4. The gene has also been identified as a potential biomarker in various conditions including Kawasaki disease and hepatocellular carcinoma through computational analyses 56.

Sources cited
1
PGS1 functions in cardiolipin biosynthesis pathway and is associated with inherited mitochondrial diseases
PMID: 40633298
2
PGS1 forms oligomers, associates with CLS1 and PTPMT1, and interacts with cardiolipin-binding proteins in mitochondrial membranes
PMID: 29343430
3
PGS1 is identified as a mitochondria-related hub gene in septic cardiomyopathy associated with immune infiltration
PMID: 38291374
4
PGS1 depletion reduces cardiolipin content and can modulate mitochondrial dynamics by inhibiting fission
PMID: 34014035
5
PGS1 identified as potential biomarker in Kawasaki disease through machine learning analysis
PMID: 36042431
6
PGS1 identified as potential anticancer target in hepatocellular carcinoma through constraint-based modeling
PMID: 38893469
Disease Associationsⓘ20
osteoarthritis, hipOpen Targets
0.38Weak
metabolic syndromeOpen Targets
0.37Weak
familial lipoprotein lipase deficiencyOpen Targets
0.35Weak
alcohol drinkingOpen Targets
0.32Weak
response to statinOpen Targets
0.30Weak
COVID-19Open Targets
0.29Weak
severe acute respiratory syndromeOpen Targets
0.28Weak
physical activityOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.25Weak
medical procedureOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
hypertensionOpen Targets
0.18Weak
myopiaOpen Targets
0.11Weak
pathological myopiaOpen Targets
0.11Weak
hypoparathyroidism, familial isolated, 2Open Targets
0.05Suggestive
pseudohypoparathyroidism type 2Open Targets
0.04Suggestive
esophageal ulcerOpen Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
familial isolated hypoparathyroidism due to agenesis of parathyroid glandOpen Targets
0.03Suggestive
hyperparathyroidismOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDS1Protein interaction97%CDS2Protein interaction97%CDIPTProtein interaction97%TAMM41Protein interaction96%CRLS1Protein interaction95%PISDProtein interaction93%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
65%
Ovary
42%
Brain
27%
Heart
26%
Liver
25%
Gene Interaction Network
Click a node to explore
PGS1CDS1CDS2CDIPTTAMM41CRLS1PISD
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q32NB8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.00LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.59–1.00]
RankingsWhere PGS1 stands among ~20K protein-coding genes
  • #11,576of 20,598
    Most Researched32
  • #9,629of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedPGS1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
New insights into the role of mitochondrial metabolic dysregulation and immune infiltration in septic cardiomyopathy by integrated bioinformatics analysis and experimental validation.
PMID: 38291374
Cell Mol Biol Lett · 2024
1.00
2
Human biglycan gene. Putative promoter, intron-exon junctions, and chromosomal localization.
PMID: 1860845
J Biol Chem · 1991
0.90
3
Cardiolipin synthesizing enzymes form a complex that interacts with cardiolipin-dependent membrane organizing proteins.
PMID: 29343430
Biochim Biophys Acta Mol Cell Biol Lipids · 2018
0.80
4
A review of disorders of cardiolipin metabolism: Pathophysiology, clinical presentation and future directions.
PMID: 40633298
Mol Genet Metab · 2025
0.70
5
Identification of Anticancer Enzymes and Biomarkers for Hepatocellular Carcinoma through Constraint-Based Modeling.
PMID: 38893469
Molecules · 2024
0.60