PAQR4
Chr 16progestin and adipoQ receptor family member 4
The protein functions as a molecular adaptor that stabilizes ceramide synthases CERS2 and CERS5, regulating ceramide biosynthesis and maintaining adipose tissue function through ceramide level control. This gene is highly constrained against loss-of-function variants (pLI=1.0, LOEUF=1.7), suggesting mutations would likely cause severe disease, though specific pediatric neurogenetic disorders associated with PAQR4 mutations have not been established in the provided data. The inheritance pattern for PAQR4-related conditions has not been determined.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
PAQR4 · 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