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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PPCS
phosphopantothenoylcysteine synthetase
Chromosome 1 Β· 1p34.2
NCBI Gene: 79717Ensembl: ENSG00000127125.10HGNC: HGNC:25686UniProt: Q9HAB8
29PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
phosphopantothenate--cysteine ligase activityidentical protein bindingprotein homodimerization activityheart processdilated cardiomyopathyneurodegenerative diseaselysosomal storage diseasefamilial isolated dilated cardiomyopathy
✦AI Summary

PPCS (phosphopantothenoylcysteine synthetase) catalyzes the second step in coenzyme A biosynthesis from vitamin B5, conjugating cysteine to 4'-phosphopantothenate to form 4-phosphopantothenoylcysteine 123. The enzyme demonstrates preferential use of ATP over CTP as a cosubstrate 1. PPCS functions as a homodimer and localizes to the cytoplasm, nucleus, and cytosol, participating in acetyl-CoA biosynthetic processes and cardiac function [GO Annotations]. Biallelic mutations in PPCS cause autosomal-recessive dilated cardiomyopathy (DCM2C), a potentially fatal condition characterized by cardiac dysfunction without neurodegeneration, distinguishing it from defects in related CoA synthesis genes like PANK2 and COASY which cause neurodegeneration with brain iron accumulation 4. PPCS-deficiency represents a relatively new disease entity with unclear pathophysiology and currently no targeted therapeutic approaches. Patient-derived induced pluripotent stem cells have been generated as cellular models for investigating disease mechanisms and screening potential therapeutic compounds, offering promise for understanding PPCS-related cardiomyopathy and developing future treatments 4.

Sources cited
1
PPCS catalyzes conjugation of cysteine to 4'-phosphopantothenate and prefers ATP over CTP as cosubstrate
PMID: 11923312
2
PPCS catalyzes the second step in coenzyme A biosynthesis from vitamin B5
PMID: 12906824
3
PPCS catalyzes formation of 4-phosphopantothenoylcysteine in CoA biosynthesis
PMID: 29754768
4
Biallelic PPCS mutations cause autosomal-recessive dilated cardiomyopathy without neurodegeneration; iPSC models generated for disease studies
PMID: 35397396
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
dilated cardiomyopathyOpen Targets
0.68Moderate
neurodegenerative diseaseOpen Targets
0.56Moderate
familial isolated dilated cardiomyopathyOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
Abnormality of the cardiovascular systemOpen Targets
0.17Weak
coronary artery diseaseOpen Targets
0.15Weak
headache disorderOpen Targets
0.15Weak
leukoencephalopathy with vanishing white matter 1Open Targets
0.12Weak
HeadacheOpen Targets
0.10Suggestive
Abruptio PlacentaeOpen Targets
0.02Suggestive
nephrolithiasisOpen Targets
0.02Suggestive
systemic lupus erythematosusOpen Targets
0.02Suggestive
primary peritoneal carcinomaOpen Targets
0.02Suggestive
autosomal recessive dilated cardiomyopathyOpen Targets
0.01Suggestive
Ochoa syndromeOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
atherosclerosisOpen Targets
0.00Suggestive
leukemiaOpen Targets
0.00Suggestive
malariaOpen Targets
0.00Suggestive
Cardiomyopathy, dilated, 2CUniProt
Pathogenic Variants4
NM_024664.4(PPCS):c.698A>T (p.Glu233Val)Pathogenic
Cardiomyopathy, dilated, 2c|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 233
NM_024664.4(PPCS):c.727G>C (p.Ala243Pro)Likely pathogenic
Cardiomyopathy, dilated, 2c
β˜…β˜†β˜†β˜†2024β†’ Residue 243
NM_001287511.2(PPCS):c.636_639del (p.Leu213fs)Likely pathogenic
Cardiomyopathy, dilated, 2c
β˜…β˜†β˜†β˜†2021β†’ Residue 213
NM_024664.4(PPCS):c.538G>C (p.Ala180Pro)Pathogenic
Cardiomyopathy, dilated, 2c
β˜†β˜†β˜†β˜†2018β†’ Residue 180
View on ClinVar β†—
Related Genes
GOT1Protein interaction98%GOT1L1Protein interaction96%KYAT1Protein interaction80%CDO1Protein interaction80%CTHProtein interaction80%KYAT3Protein interaction80%
Tissue Expression6 tissues
Liver
100%
Heart
81%
Brain
68%
Lung
63%
Bone Marrow
56%
Ovary
54%
Gene Interaction Network
Click a node to explore
PPCSGOT1GOT1L1KYAT1CDO1CTHKYAT3
PROTEIN STRUCTURE
Preparing viewer…
PDB7EDZ Β· 1.95 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.06LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.48–1.06]
RankingsWhere PPCS stands among ~20K protein-coding genes
  • #12,207of 20,598
    Most Researched29
  • #3,836of 5,498
    Most Pathogenic Variants4
  • #10,722of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedPPCS
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Lung-protective ventilation for the surgical patient: international expert panel-based consensus recommendations.
PMID: 31587835
Br J Anaesth Β· 2019
1.00
2
Improving lung protective mechanical ventilation: the individualised intraoperative open-lung approach.
PMID: 39880492
Br J Anaesth Β· 2025
0.90
3
Incentive spirometry is an effective strategy to improve the quality of postoperative care in patients.
PMID: 36437210
Asian J Surg Β· 2023
0.80
4
Electrical Impedance Tomography-based Ventilation Patterns in Patients after Major Surgery.
PMID: 38346178
Am J Respir Crit Care Med Β· 2024
0.70
5
Prediction models for postoperative pulmonary complications: a systematic review and meta-analysis.
PMID: 40473567
Br J Anaesth Β· 2025
0.60