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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PPCDC
phosphopantothenoylcysteine decarboxylase
Chromosome 15 · 15q24.2
NCBI Gene: 60490Ensembl: ENSG00000138621.12HGNC: HGNC:28107UniProt: H3BQB0
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
FMN bindingphosphopantothenoylcysteine decarboxylase activityprotein bindingidentical protein bindingneurodegenerative diseaseneuroinflammatory disorderenteritiscolitis
✦AI Summary

PPCDC (phosphopantothenoylcysteine decarboxylase) catalyzes the decarboxylation of 4'-phosphopantothenoylcysteine to 4'-phosphopantetheine, a critical enzymatic step in coenzyme A (CoA) biosynthesis 1. This reaction is essential for CoA production, a universal cofactor required for over 100 metabolic reactions including long-chain fatty acid activation and mitochondrial energy metabolism 2. The enzyme contains an FMN-binding domain and functions in the cytosol as part of a conserved five-step pathway involving four enzymes 1. PPCDC deficiency causes severe pathology through energy depletion. Biallelic PPCDC variants (p.Thr53Pro and p.Ala95Val) cause ultra-rare, fatal autosomal-recessive dilated cardiomyopathy, with the Thr53 residue critical for FMN binding and Ala95 affecting protein stability 1. Patient fibroblasts show ~50% CoA reduction, mitochondrial respiratory defects, and reliance on glycolytic ATP synthesis 1. CoA limitation represents a critical cardiomyopathy pathomechanism, with potential therapeutic benefit from vitamin B5 derivatives 2. Additionally, PPCDC genetic variation associates with chemotherapy-related amenorrhea risk in breast cancer patients 3, and the CoA biosynthesis pathway regulates yeast lifespan 4. PPCDC represents the second CoA biosynthesis enzyme linked to cardiac disease, contrasting with neurological manifestations of first and last pathway enzyme defects 5.

Sources cited
1
PPCDC catalyzes decarboxylation of 4'-phosphopantothenoylcysteine to 4'-phosphopantetheine in CoA biosynthesis; biallelic variants cause fatal dilated cardiomyopathy with reduced CoA and mitochondrial dysfunction
PMID: 36564894
2
PPCDC deficiency causes CoA limitation and cardiac dysfunction; vitamin B5 derivatives may restore CoA production
PMID: 38591231
3
PPCDC genetic variation (rs147451859) associates with chemotherapy-related amenorrhea risk in breast cancer patients
PMID: 31371054
4
CoA biosynthesis pathway, including PPCDC, regulates yeast replicative lifespan in dose-dependent manner
PMID: 38012152
5
PPCDC deficiency represents one of four rare CoA biosynthesis disorders; second and third pathway enzymes cause dilated cardiomyopathy
PMID: 36983025
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.16Weak
colitisOpen Targets
0.14Weak
enteritisOpen Targets
0.14Weak
systemic lupus erythematosusOpen Targets
0.14Weak
inflammatory bowel diseaseOpen Targets
0.08Suggestive
deep vein thrombosisOpen Targets
0.07Suggestive
allergic rhinitisOpen Targets
0.07Suggestive
allergic diseaseOpen Targets
0.07Suggestive
respiratory system diseaseOpen Targets
0.07Suggestive
Eczematoid dermatitisOpen Targets
0.06Suggestive
amenorrheaOpen Targets
0.06Suggestive
response to antineoplastic agentOpen Targets
0.05Suggestive
Abnormal thrombosisOpen Targets
0.05Suggestive
liver diseaseOpen Targets
0.05Suggestive
placental retentionOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.02Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
osteosarcomaOpen Targets
0.01Suggestive
SepsisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DCAKDShared pathway100%PANK1Protein interaction98%COASYProtein interaction98%ENPP1Protein interaction90%ENPP3Protein interaction90%TYMSProtein interaction89%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
88%
Liver
85%
Ovary
56%
Heart
42%
Brain
35%
Gene Interaction Network
Click a node to explore
PPCDCDCAKDPANK1COASYENPP1ENPP3TYMS
PROTEIN STRUCTURE
Preparing viewer…
PDB1QZU · 2.91 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.32LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.90 [0.63–1.32]
RankingsWhere PPCDC stands among ~20K protein-coding genes
  • #14,499of 20,598
    Most Researched19
  • #13,859of 17,882
    Most Constrained (LOEUF)1.32
Genes detectedPPCDC
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy.
PMID: 36564894
J Inherit Metab Dis · 2023
1.00
2
Impaired coenzyme A homeostasis in cardiac dysfunction and benefits of boosting coenzyme A production with vitamin B5 and its derivatives in the management of heart failure.
PMID: 38591231
J Inherit Metab Dis · 2024
0.90
3
Genetic predictors of chemotherapy-related amenorrhea in women with breast cancer.
PMID: 31371054
Fertil Steril · 2019
0.80
4
Identification and immune characteristics of N6-methyladenosine related ferroptosis-related genes in intervertebral disc degeneration.
PMID: 41023110
Sci Rep · 2025
0.70
5
Sis2 regulates yeast replicative lifespan in a dose-dependent manner.
PMID: 38012152
Nat Commun · 2023
0.60