PTGS1
Chr 9prostaglandin-endoperoxide synthase 1
Also known as: COX1, COX3, PCOX1, PES-1, PGG/HS, PGHS-1, PGHS1, PHS1
The protein functions as a dual cyclooxygenase and peroxidase enzyme that catalyzes the conversion of arachidonic acid to prostaglandin H2, the precursor of all prostaglandins and thromboxanes, with constitutive roles in gastric cytoprotection and platelet aggregation. Based on the provided information, no specific pediatric neurogenetic diseases have been definitively associated with PTGS1 mutations, though the predicted gain-of-function mechanism and low constraint metrics suggest potential pathogenicity when mutated.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PTGS1 · 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
Efficacy and Safety of Stapokibart in Non-Allergic Rhinitis With Eosinophilia Syndrome
NOT YET RECRUITINGPTGS1 Genetic Variation and Increased Risk for Persistent Pulmonary Hypertension of the Newborn
RECRUITINGThe Seven Trial: Exploiting the Unfolded Protein Response
ACTIVE NOT RECRUITINGExpression of Genes Relating Hypertension and Efficacy of 4-7-8 Breathing Control on Reducing Blood Pressure
RECRUITINGExternal Resources
Links to major genomics databases and tools