ABHD13

Chr 13

abhydrolase domain containing 13

Also known as: BEM46L1, C13orf6, bA153I24.2

NCBI Gene: 84945ENSG00000139826UniProt: Q7L211OMIM: 621039

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.

OMIMResearchSummary from RefSeq
LOEUF 0.41
Clinical Summary— ABHD13
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Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.89) — some intolerance to loss-of-function variants.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.41LOEUF
pLI 0.895
Z-score 2.90
OE 0.09 (0.03–0.41)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.47Z-score
OE missense 0.69 (0.60–0.80)
127 obs / 183.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.09 (0.03–0.41)
0≤0.351.4
Missense OE0.69 (0.60–0.80)
0≤0.61.4
Synonymous OE1.03
0≤1.21.6
LoF obs/exp: 1 / 11.7Missense obs/exp: 127 / 183.1Syn Z: -0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients