COASY encodes Coenzyme A synthase (564 aa). Bifunctional enzyme that catalyzes the fourth step of the coenzyme A biosynthetic pathway, the adenylation of 4'-phosphopantetheine, and the fifth step, the phosphorylation of dephospho-CoA to CoA Highest expression in Thyroid (84.3 TPM) and Adrenal Gland (78.3 TPM).

Neurodegeneration with brain iron accumulation 6 is associated with mutations in the COASY gene on chromosome 17.

The COASY protein participates in COASY transfers an adenylyl group from ATP to PPANT pathway.

COASY is classified as a druggable target (Enzyme and Kinase categories) with score 0.0.

Genetic testing for COASY is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neurodegeneration with brain iron accumulation 6 has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 10 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

130 publications have been identified in PubMed for neurodegeneration with brain iron accumulation 6. Research spans Diagnostic / Biomarker (37%), Basic Science / Preclinical (23%), and Epidemiology / Natural History (15%).

Recent Publications

• Chu K (2026). [PMID: 41639581](https://pubmed.ncbi.nlm.nih.gov/41639581/). *BJOG*. [Diagnostic / Biomarker]

• Ahannach S (2026). [PMID: 42010351](https://pubmed.ncbi.nlm.nih.gov/42010351/). *Nat Protoc*. [Review / Meta-Analysis]

• Ahmed-Bentley J (2026). [PMID: 42013488](https://pubmed.ncbi.nlm.nih.gov/42013488/). *Diagn Microbiol Infect Dis*. [Diagnostic / Biomarker]

• Caza M (2026). [PMID: 41046814](https://pubmed.ncbi.nlm.nih.gov/41046814/). *Diagn Microbiol Infect Dis*. [Diagnostic / Biomarker]

• Song SJ (2026). [PMID: 41406724](https://pubmed.ncbi.nlm.nih.gov/41406724/). *Neurobiol Aging*. [Basic Science / Preclinical]

• Skowrońska M (2026). [PMID: 41483640](https://pubmed.ncbi.nlm.nih.gov/41483640/). *Parkinsonism Relat Disord*. [Basic Science / Preclinical]

• Waters K (2026). [PMID: 42066254](https://pubmed.ncbi.nlm.nih.gov/42066254/). *Microbiol Spectr*. [Diagnostic / Biomarker]

• Nisha M (2026). [PMID: 41330270](https://pubmed.ncbi.nlm.nih.gov/41330270/). *Gynecol Oncol*. [Diagnostic / Biomarker]

• Stander Z (2026). [PMID: 42029543](https://pubmed.ncbi.nlm.nih.gov/42029543/). *Int J Neonatal Screen*. [Diagnostic / Biomarker]

• Damgacioglu H (2026). [PMID: 41490106](https://pubmed.ncbi.nlm.nih.gov/41490106/). *JAMA Netw Open*. [Clinical Trial Publication]