PTGDS
Chr 9prostaglandin D2 synthase
Also known as: L-PGDS, LPGDS, PDS, PGD2, PGDS, PGDS2
This protein catalyzes the conversion of prostaglandin H2 to prostaglandin D2, which functions as a neuromodulator and trophic factor in the central nervous system and is involved in non-rapid eye movement sleep regulation. The gene shows very low intolerance to loss-of-function variants (pLI 0.005) and has a predicted de novo mechanism of pathogenicity, but no specific disease phenotypes are provided in the available data. The protein also binds lipophilic molecules and may contribute to blood-brain barrier maintenance and CNS development.
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 (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative 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
PTGDS · 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