ABHD11
Chr 7abhydrolase domain containing 11
Also known as: PP1226, WBSCR21
The protein catalyzes the hydrolysis of diacylglycerol to regulate lipid metabolism and maintains functional lipoylation of the 2-oxoglutarate dehydrogenase complex. ABHD11 is deleted in Williams syndrome, a multisystem developmental disorder caused by contiguous gene deletions at 7q11.23, with autosomal dominant inheritance. The gene shows low constraint against loss-of-function variants (pLI 0.003), suggesting that isolated ABHD11 mutations may not cause significant disease phenotypes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
244 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 | 0 | 0 | 158 | 0 | 158 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 0 | 59 | 6 | 0 | 65 |
Likely Benign | 1 | 3 | 0 | 1 | 5 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 1 | 62 | 170 | 1 | 234 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ABHD11 · 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