ABHD13
Chr 13abhydrolase domain containing 13
Also known as: BEM46L1, C13orf6, bA153I24.2
The ABHD13 protein functions as a palmitoyl-(protein) hydrolase that removes palmitate groups from proteins through depalmitoylation. This gene is highly constrained against loss-of-function variants (pLI 0.89, LOEUF 0.41), suggesting mutations would likely cause significant disease, though no specific genetic disorders have been definitively associated with ABHD13 mutations to date.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
169 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 | 114 | 0 | 114 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 39 | 10 | 0 | 49 |
Likely Benign | 0 | 2 | 0 | 0 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 41 | 124 | 0 | 165 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ABHD13 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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 →No open access results found
External Resources
Links to major genomics databases and tools