COASY
Chr 17ARCoenzyme A synthase
Also known as: DPCK, NBIA6, NBP, PCH12, PPAT, UKR1, pOV-2
Coenzyme A synthase catalyzes the final two steps in coenzyme A biosynthesis from pantothenic acid (vitamin B5), converting 4'-phosphopantetheine to dephospho-coenzyme A and then phosphorylating it to form coenzyme A. Autosomal recessive mutations cause neurodegeneration with brain iron accumulation type 6 and pontocerebellar hypoplasia type 12. The pathogenic mechanism involves disruption of coenzyme A synthesis, which impairs acetyl and acyl group metabolism essential for numerous cellular processes including energy production and membrane trafficking.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
421 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 16 | 1 | 7 | 0 | 24 |
Likely Pathogenic | 10 | 2 | 1 | 0 | 13 |
VUS | 1 | 190 | 9 | 2 | 202 |
Likely Benign | 0 | 3 | 53 | 88 | 144 |
Benign | 0 | 2 | 8 | 3 | 13 |
Conflicting | — | 13 | |||
| Total | 27 | 198 | 78 | 93 | 409 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
COASY · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools