COASY Gene - Coenzyme A Synthase
Essential enzyme in coenzyme A biosynthesis and neurodegeneration
Gene Information Card
| Symbol | COASY |
|---|---|
| Full Name | Coenzyme A Synthase |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 80347 ncbi.nlm.nih.gov/gene/80347 |
| Ensembl ID | ENSG00000168140 |
| UniProt ID | Q13057 |
| OMIM ID | 609855 |
| HGNC ID | 29998 |
| Aliases | NBP, PSEC0102, CoA synthase, CoASy |
Description
The COASY gene encodes coenzyme A synthase, a bifunctional enzyme that catalyzes the final two steps of coenzyme A (CoA) biosynthesis: the dephosphorylation of 4'-phosphopantetheine to form 4'-phosphopantothenate and the subsequent adenylylation to form dephospho-CoA. CoA is an essential cofactor for numerous metabolic pathways including fatty acid oxidation, the citric acid cycle, and acetylcholine synthesis. Mutations in COASY are associated with neurodegeneration with brain iron accumulation (NBIA) type 6, also known as CoPAN (COASY protein-associated neurodegeneration).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegeneration with brain iron accumulation 6 (NBIA6, CoPAN) | Loss-of-function mutations impair CoA biosynthesis, leading to mitochondrial dysfunction and iron accumulation in the brain | OMIM #615643, multiple case reports |
| Pantothenate kinase-associated neurodegeneration (PKAN) | Indirect: COASY acts downstream of PANK2; pathway disruption mimics PKAN phenotype | Functional studies in cellular models |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 18.3 | Medium |
| Heart | 15.7 | Medium |
| Kidney | 14.2 | Medium |
| Skeletal muscle | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 16.1 | High expression |
| HeLa | 12.4 | Medium expression |
| SH-SY5Y | 14.8 | Medium expression |
| HepG2 | 19.2 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.157C>T (p.Arg53Trp) | Missense | Rare | Loss of enzyme activity |
| c.493G>A (p.Gly165Arg) | Missense | Rare | Impaired CoA synthesis |
| c.1132C>T (p.Arg378*) | Nonsense | Very rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most COASY mutations are loss-of-function, reducing CoA synthase activity and leading to CoA deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • coenzyme A synthase activity (GO:0004779) | • coenzyme A biosynthetic process (GO:0015937) |
| • mitochondrion (GO:0005739) | • cytosol (GO:0005829) |
| • transferase activity (GO:0016740) |
Pathways
• Pantothenate and CoA biosynthesis (KEGG: hsa00770)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
Coenzyme A synthase (COASY) is a 564-amino acid bifunctional enzyme localized to mitochondria and cytosol. It contains a 4'-phosphopantetheine adenylyltransferase domain and a dephospho-CoA kinase domain. The enzyme catalyzes the final two steps of CoA biosynthesis, converting 4'-phosphopantetheine to dephospho-CoA and then to CoA. COASY is essential for cellular metabolism and energy production. Mutations cause autosomal recessive neurodegeneration with brain iron accumulation (NBIA6/CoPAN), characterized by dystonia, parkinsonism, and iron deposition in the basal ganglia.
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