ABHD5

Chr 3AR

abhydrolase domain containing 5, lysophosphatidic acid acyltransferase

Also known as: CGI58, IECN2, NCIE2

NCBI Gene: 51099ENSG00000011198UniProt: Q8WTS1OMIM: 604780

The encoded protein functions as a coenzyme A-dependent lysophosphatidic acid acyltransferase involved in phosphatidic acid biosynthesis and regulation of triacylglycerol storage through activation of phospholipase PNPLA2. Mutations cause Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation characterized by systemic lipid accumulation affecting skin, liver, muscle, and other organs. Inheritance is autosomal recessive.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.981 OMIM phenotype
Clinical Summary— ABHD5
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Gene-Disease Validity (ClinGen)
Dorfman-Chanarin disease · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
42 unique Pathogenic / Likely Pathogenic· 164 VUS of 372 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.98LOEUF
pLI 0.000
Z-score 1.63
OE 0.62 (0.40–0.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.47Z-score
OE missense 0.90 (0.79–1.03)
166 obs / 184.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.62 (0.40–0.98)
0≤0.351.4
Missense OE0.90 (0.79–1.03)
0≤0.61.4
Synonymous OE1.31
0≤1.21.6
LoF obs/exp: 13 / 21.1Missense obs/exp: 166 / 184.1Syn Z: -1.98
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveABHD5-related ichthyotic neutral lipid storage diseaseLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.6648th %ile
GOF
0.5661th %ile
LOF
0.3066th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

372 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic28
Likely Pathogenic14
VUS164
Likely Benign116
Benign33
Conflicting11
28
Pathogenic
14
Likely Pathogenic
164
VUS
116
Likely Benign
33
Benign
11
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
17
3
8
0
28
Likely Pathogenic
8
2
4
0
14
VUS
0
95
67
2
164
Likely Benign
0
7
51
58
116
Benign
0
1
30
2
33
Conflicting
—11
Total2510816062366

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ABHD5 · 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.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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