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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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COASY
Coenzyme A synthase
Chromosome 17 Β· 17q21.2
NCBI Gene: 80347Ensembl: ENSG00000068120.15HGNC: HGNC:29932UniProt: Q13057
85PubMed Papers
22Diseases
0Drugs
30Pathogenic Variants
FUNCTIONAL ROLE
Kinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionextracellular exosomepantetheine-phosphate adenylyltransferase activityprotein bindingneurodegeneration with brain iron accumulation 6Non-syndromic pontocerebellar hypoplasiaCOASY protein-associated neurodegenerationneurodegeneration with brain iron accumulation
✦AI Summary

COASY (coenzyme A synthase) is a bifunctional enzyme catalyzing the final two steps of coenzyme A (CoA) biosynthesis: adenylation of 4'-phosphopantetheine and phosphorylation of dephospho-CoA to CoA 1. CoA is essential for multiple metabolic pathways including the tricarboxylic acid cycle, lipid synthesis, histone acetylation, and heme biosynthesis 1. COASY expression is upregulated during erythroid differentiation and is critical for heme accumulation and proper erythropoiesis 2. COASY mutations cause neurodegeneration with brain iron accumulation 6 (NBIA-VI) and pontocerebellar hypoplasia 12, accounting for ultrarare NBIA cases 3. Zebrafish studies demonstrate that COASY loss reduces CoA content, impairs dorso-ventral patterning through decreased bone morphogenetic protein signaling, and increases cell death during neural and vascular development 4. Beyond neurodegeneration, COASY dysfunction contributes to metabolic dysfunction-associated steatohepatitis (MASH) pathogenesis; COASY knockdown reduces cholesterol accumulation in liver lipid droplets and prevents MASH and fibrosis development 56. Additionally, elevated COASY expression is associated with lung adenocarcinoma progression through mitophagy-related mechanisms 7. COASY promoter methylation shows diagnostic potential as a biomarker for Alzheimer's disease and amnestic mild cognitive impairment, with 96.6% sensitivity and 96.7% specificity 8.

Sources cited
1
COASY catalyzes the final steps of CoA biosynthesis and CoA is required for tricarboxylic acid cycle, lipid synthesis, histone acetylation, and heme biosynthesis
PMID: 38871981
2
COASY is upregulated during erythroid differentiation; COASY silencing prevents erythroid colony formation and heme accumulation; COASY mis-splicing in MDS-RS depletes CoA and succinyl-CoA
PMID: 36857430
3
CoASY mutations cause ultrarare neurodegeneration with brain iron accumulation (NBIA-VI)
PMID: 29325618
4
COASY downregulation reduces CoA content, impairs dorso-ventral patterning through decreased Bmp signaling, and increases cell death during neural and vascular development in zebrafish
PMID: 27892483
5
COASY knockdown reduces liver lipid droplet cholesterol content and prevents MASH and fibrosis development
PMID: 40060523
6
COASY knockdown decreases liver lipid droplet cholesterol and prevents CDAHFD-induced MASH and fibrotic response
PMID: 40310463
7
COASY is a critical biomarker in lung adenocarcinoma, potentially influencing tumorigenesis through mitophagy-related mechanisms
PMID: 40313958
8
COASY promoter methylation is a high sensitivity (96.6%) and specificity (96.7%) biomarker for Alzheimer's disease diagnosis
PMID: 27992572
Disease Associationsβ“˜22
neurodegeneration with brain iron accumulation 6Open Targets
0.82Strong
Non-syndromic pontocerebellar hypoplasiaOpen Targets
0.74Strong
COASY protein-associated neurodegenerationOpen Targets
0.68Moderate
neurodegeneration with brain iron accumulationOpen Targets
0.66Moderate
neurodegenerative diseaseOpen Targets
0.56Moderate
arthrogryposisOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.37Weak
neurodegeneration with brain iron accumulation 2BOpen Targets
0.34Weak
isolated cerebellar hypoplasia/agenesisOpen Targets
0.33Weak
type 2 diabetes mellitusOpen Targets
0.22Weak
schizophreniaOpen Targets
0.13Weak
metabolic syndromeOpen Targets
0.09Suggestive
Eczematoid dermatitisOpen Targets
0.08Suggestive
coronary artery diseaseOpen Targets
0.07Suggestive
peripheral vascular diseaseOpen Targets
0.07Suggestive
diabetes mellitusOpen Targets
0.06Suggestive
autoimmune diseaseOpen Targets
0.05Suggestive
psoriasisOpen Targets
0.04Suggestive
familial pseudohyperkalemiaOpen Targets
0.04Suggestive
Blackfan-Diamond anemiaOpen Targets
0.04Suggestive
Neurodegeneration with brain iron accumulation 6UniProt
Pontocerebellar hypoplasia 12UniProt
Pathogenic Variants30
NM_025233.7(COASY):c.1388-2A>GLikely pathogenic
Neurodegeneration with brain iron accumulation 6|COASY-related disorder|not provided|Familial cancer of breast|Neurodegeneration with brain iron accumulation 6;Pontocerebellar hypoplasia, type 12
β˜…β˜…β˜†β˜†2025
NM_025233.7(COASY):c.641C>T (p.Ala214Val)Likely pathogenic
Neurodegeneration with brain iron accumulation 6|COASY-Related Disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 214
NM_025233.7(COASY):c.1486-3C>GPathogenic
Pontocerebellar hypoplasia, type 12|not provided|Neurodegeneration with brain iron accumulation 2B|Neurodegeneration with brain iron accumulation 6
β˜…β˜…β˜†β˜†2025
NM_025233.7(COASY):c.1549_1550del (p.Ser517fs)Pathogenic
Pontocerebellar hypoplasia, type 12|not provided|Neurodegeneration with brain iron accumulation
β˜…β˜…β˜†β˜†2025β†’ Residue 517
NM_025233.7(COASY):c.1567C>T (p.Gln523Ter)Pathogenic
Neurodegeneration with brain iron accumulation 6|COASY-Related Disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 523
NM_025233.7(COASY):c.1129C>T (p.Arg377Ter)Pathogenic
Neurodegeneration with brain iron accumulation 6|Pontocerebellar hypoplasia, type 12;Neurodegeneration with brain iron accumulation 6|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 377
NM_025233.7(COASY):c.1495C>T (p.Arg499Cys)Pathogenic
Neurodegeneration with brain iron accumulation 6|not provided|Neurodegeneration with brain iron accumulation
β˜…β˜…β˜†β˜†2024β†’ Residue 499
NM_025233.7(COASY):c.1579C>T (p.Gln527Ter)Pathogenic
Neurodegeneration with brain iron accumulation 6
β˜…β˜†β˜†β˜†2026β†’ Residue 527
NM_025233.7(COASY):c.600dup (p.Asp201Ter)Pathogenic
Neurodegeneration with brain iron accumulation 6
β˜…β˜†β˜†β˜†2025β†’ Residue 201
NM_025233.7(COASY):c.183del (p.Phe62fs)Pathogenic
Neurodegeneration with brain iron accumulation 6
β˜…β˜†β˜†β˜†2024β†’ Residue 62
NM_025233.7(COASY):c.732_733del (p.Thr245fs)Pathogenic
Neurodegeneration with brain iron accumulation 6
β˜…β˜†β˜†β˜†2024β†’ Residue 245
NM_025233.7(COASY):c.1068_1069del (p.Cys357fs)Pathogenic
Neurodegeneration with brain iron accumulation
β˜…β˜†β˜†β˜†2024β†’ Residue 357
NM_025233.7(COASY):c.1387+1G>ALikely pathogenic
Pontocerebellar hypoplasia, type 12;Neurodegeneration with brain iron accumulation 6
β˜…β˜†β˜†β˜†2024
NM_025233.7(COASY):c.1401_1404dup (p.Ile469fs)Pathogenic
Neurodegeneration with brain iron accumulation 6
β˜…β˜†β˜†β˜†2024β†’ Residue 469
NM_025233.7(COASY):c.586_587del (p.Val196fs)Likely pathogenic
Pontocerebellar hypoplasia, type 12
β˜…β˜†β˜†β˜†2023β†’ Residue 196
NM_025233.7(COASY):c.423C>A (p.Tyr141Ter)Pathogenic
Neurodegeneration with brain iron accumulation 6
β˜…β˜†β˜†β˜†2023β†’ Residue 141
NM_025233.7(COASY):c.1303-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_025233.7(COASY):c.545_546del (p.Gly182fs)Pathogenic
Neurodegeneration with brain iron accumulation 6
β˜…β˜†β˜†β˜†2023β†’ Residue 182
NM_025233.7(COASY):c.90_96del (p.Ala30_Arg31insTer)Likely pathogenic
Neurodegeneration with brain iron accumulation 6
β˜…β˜†β˜†β˜†2022β†’ Residue 30
NM_025233.7(COASY):c.492del (p.Glu164fs)Likely pathogenic
Neurodegeneration with brain iron accumulation
β˜…β˜†β˜†β˜†2022β†’ Residue 164
View on ClinVar β†—
Related Genes
WDR45Protein interaction98%PANK1Protein interaction98%PPCDCProtein interaction98%AASDHPPTProtein interaction91%COX19Protein interaction91%CCDC30Protein interaction91%
Tissue Expression6 tissues
Liver
100%
Lung
47%
Bone Marrow
38%
Ovary
34%
Brain
33%
Heart
26%
Gene Interaction Network
Click a node to explore
COASYWDR45PANK1PPCDCAASDHPPTCOX19CCDC30
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q13057
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.79LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.59 [0.44–0.79]
RankingsWhere COASY stands among ~20K protein-coding genes
  • #5,599of 20,598
    Most Researched85
  • #1,808of 5,498
    Most Pathogenic Variants30
  • #6,534of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedCOASY
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Neurodegeneration with brain iron accumulation.
PMID: 29325618
Handb Clin Neurol Β· 2018
1.00
2
Coenzyme A biosynthesis: mechanisms of regulation, function and disease.
PMID: 38871981
Nat Metab Β· 2024
0.90
3
Vitamin B5 and succinyl-CoA improve ineffective erythropoiesis in
PMID: 36857430
Sci Transl Med Β· 2023
0.80
4
Liver lipid droplet cholesterol content is a key determinant of metabolic dysfunction-associated steatohepatitis.
PMID: 40060523
bioRxiv Β· 2025
0.70
5
Liver lipid droplet cholesterol content is a key determinant of metabolic dysfunction-associated steatohepatitis.
PMID: 40310463
Proc Natl Acad Sci U S A Β· 2025
0.60