HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ABHD6
abhydrolase domain containing 6, acylglycerol lipase
Chromosome 3 · 3p14.3
NCBI Gene: 57406Ensembl: ENSG00000163686.16HGNC: HGNC:21398UniProt: Q9BV23
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
monoacylglycerol lipase activityprotein bindingacylglycerol catabolic processmembraneAlzheimer diseasemultiple sclerosisneurodegenerative diseaseParkinson disease
✦AI Summary

ABHD6 is a transmembrane serine hydrolase that functions as a monoacylglycerol lipase with preferential activity toward medium-chain saturated monoacylglycerols, particularly the endocannabinoid 2-arachidonoylglycerol (2-AG) 1. The enzyme plays a crucial role in endocannabinoid signaling by regulating 2-AG abundance in both central and peripheral tissues, thereby modulating neurotransmission, inflammation, and metabolic processes 2. ABHD6 also exhibits lysophosphatidyl lipase activity and serves as the major enzyme for bis(monoacylglycero)phosphate catabolism in late endosomes and lysosomes 1. The enzyme's biological significance extends beyond cannabinoid metabolism, as it regulates insulin secretion, adipose browning, food intake, and has been implicated in autoimmune disorders, neurological diseases, and cancer 3. Recent studies have identified ABHD6 as a therapeutic target, with highly selective inhibitors showing promise in preclinical models of epilepsy, neuropathic pain, inflammation, and Type-2 diabetes 4. The enzyme's dual role in lipid metabolism and receptor trafficking makes it particularly relevant for treating devastating diseases while potentially avoiding the side effects associated with complete blockade of primary 2-AG hydrolases 2.

Sources cited
1
ABHD6 is a MAG hydrolase that preferentially hydrolyzes medium-chain saturated monoacylglycerols and regulates endocannabinoid signaling
PMID: 28880480
2
ABHD6 modulates neurotransmission and inflammation through endocannabinoid signaling and controls receptor trafficking
PMID: 30853109
3
ABHD6 is involved in various physiological processes including insulin secretion, adipose browning, and neurological diseases
PMID: 32371333
4
Highly selective ABHD6 inhibitors show therapeutic promise in preclinical models of epilepsy, pain, and diabetes
PMID: 34486233
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.36Weak
multiple sclerosisOpen Targets
0.36Weak
neurodegenerative diseaseOpen Targets
0.36Weak
lysosomal storage diseaseOpen Targets
0.36Weak
Parkinson diseaseOpen Targets
0.36Weak
polycythemia veraOpen Targets
0.26Weak
Abnormality of refractionOpen Targets
0.19Weak
response to statinOpen Targets
0.10Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
obesityOpen Targets
0.06Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.05Suggestive
familial partial lipodystrophy, Kobberling typeOpen Targets
0.04Suggestive
Familial partial lipodystrophy, Köbberling typeOpen Targets
0.04Suggestive
exercise-induced hyperinsulinismOpen Targets
0.04Suggestive
CIDEC-related familial partial lipodystrophyOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.04Suggestive
obesity due to pro-opiomelanocortin deficiencyOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NAPEPLDProtein interaction93%DAGLAProtein interaction88%GPR55Protein interaction88%DAGLBProtein interaction85%ABHD4Protein interaction72%MGLLProtein interaction64%
Tissue Expression6 tissues
Liver
100%
Brain
36%
Heart
17%
Lung
12%
Ovary
10%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
ABHD6NAPEPLDDAGLAGPR55DAGLBABHD4MGLL
PROTEIN STRUCTURE
Preparing viewer…
PDB7OTS · 1.79 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.07LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.58–1.07]
RankingsWhere ABHD6 stands among ~20K protein-coding genes
  • #10,904of 20,598
    Most Researched35
  • #10,763of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedABHD6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ACSL4 and polyunsaturated lipids support metastatic extravasation and colonization.
PMID: 39591965
Cell · 2025
1.00
2
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
0.90
3
Monoacylglycerol signalling and ABHD6 in health and disease.
PMID: 28880480
Diabetes Obes Metab · 2017
0.80
4
Pharmacogenetics of Cannabinoids.
PMID: 28534260
Eur J Drug Metab Pharmacokinet · 2018
0.70
5
ABHD6: Its Place in Endocannabinoid Signaling and Beyond.
PMID: 30853109
Trends Pharmacol Sci · 2019
0.60