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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ABHD5
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
Chromosome 3 Β· 3p21.33
NCBI Gene: 51099Ensembl: ENSG00000011198.10HGNC: HGNC:21396UniProt: A0A0S2Z5D6
77PubMed Papers
21Diseases
0Drugs
32Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
phosphatidic acid biosynthetic processpositive regulation of triglyceride catabolic processlipid dropletprotein bindingDorfman-Chanarin diseasepyogenic granulomapsoriasisattention deficit hyperactivity disorder
✦AI Summary

ABHD5 (abhydrolase domain containing 5) is a multifunctional protein that primarily functions as a coactivator of adipose triglyceride lipase (ATGL) in lipid metabolism and possesses lysophosphatidic acid acyltransferase activity 1. The protein regulates lipolysis by controlling the access of lipases to substrate lipids stored within lipid droplets, normally binding to perilipin 1 until released by PKA-dependent catecholamine stimulation 1. Beyond its canonical lipolytic function, ABHD5 demonstrates proteolytic activity as a serine protease that cleaves HDAC4, producing an N-terminal fragment that inhibits MEF2-dependent gene expression and controls glucose metabolism 2. Additionally, ABHD5 suppresses cancer cell stemness by interacting with DPY30 in the cytoplasm, preventing its nuclear translocation and subsequent SET1A-mediated methylation of YAP and histone H3 3. Recent evidence indicates that PNPLA3(148M) promotes hepatic steatosis by sequestering ABHD5, limiting its availability to activate ATGL-mediated triglyceride hydrolysis 4. Clinically, mutations in ABHD5 cause Chanarin-Dorfman syndrome, a rare autosomal recessive lipid storage disorder characterized by ichthyosis, hepatomegaly, hearing loss, and lipid accumulation in neutrophils 5. ABHD5 deficiency in cardiac tissue leads to heart failure, and reduced ABHD5 levels are observed in failing human hearts 2.

Sources cited
1
ABHD5 functions as a coactivator of ATGL and regulates lipolysis through protein-protein interactions on lipid droplets
PMID: 32168372
2
ABHD5 acts as a serine protease cleaving HDAC4 and has cardioprotective functions
PMID: 31742248
3
ABHD5 suppresses cancer stemness by inhibiting YAP-induced c-Met overexpression through DPY30 interaction
PMID: 34795238
4
PNPLA3(148M) promotes hepatic steatosis by sequestering ABHD5 and limiting ATGL activation
PMID: 39550037
5
ABHD5 mutations cause Chanarin-Dorfman syndrome with multisystem lipid storage manifestations
PMID: 30457558
Disease Associationsβ“˜21
Dorfman-Chanarin diseaseOpen Targets
0.83Strong
pyogenic granulomaOpen Targets
0.28Weak
psoriasisOpen Targets
0.21Weak
attention deficit hyperactivity disorderOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
Hallux rigidusOpen Targets
0.15Weak
respiratory tract infectious disorderOpen Targets
0.13Weak
smoking initiationOpen Targets
0.12Weak
risk-taking behaviourOpen Targets
0.12Weak
substance abuseOpen Targets
0.12Weak
cannabis dependenceOpen Targets
0.11Weak
placenta praeviaOpen Targets
0.11Weak
heart failureOpen Targets
0.10Weak
insomniaOpen Targets
0.10Weak
colorectal carcinomaOpen Targets
0.10Weak
cancerOpen Targets
0.08Suggestive
endometrial cancerOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
esophageal ulcerOpen Targets
0.07Suggestive
Chanarin-Dorfman syndromeUniProt
Pathogenic Variants32
NM_016006.6(ABHD5):c.550C>T (p.Arg184Ter)Pathogenic
Triglyceride storage disease with ichthyosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 184
NM_016006.6(ABHD5):c.838C>T (p.Arg280Ter)Pathogenic
Triglyceride storage disease with ichthyosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 280
NM_016006.6(ABHD5):c.700C>T (p.Arg234Ter)Pathogenic
not provided|Triglyceride storage disease with ichthyosis
β˜…β˜…β˜†β˜†2025β†’ Residue 234
NM_016006.6(ABHD5):c.1006G>T (p.Glu336Ter)Pathogenic
not provided|Triglyceride storage disease with ichthyosis
β˜…β˜…β˜†β˜†2024β†’ Residue 336
NM_016006.6(ABHD5):c.730dup (p.Thr244fs)Pathogenic
not provided|Triglyceride storage disease with ichthyosis
β˜…β˜…β˜†β˜†2018β†’ Residue 244
NM_016006.6(ABHD5):c.507-1G>APathogenic
not provided|Triglyceride storage disease with ichthyosis
β˜…β˜†β˜†β˜†2026
NM_016006.6(ABHD5):c.774-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_016006.6(ABHD5):c.345T>A (p.Ser115Arg)Likely pathogenic
Triglyceride storage disease with ichthyosis
β˜…β˜†β˜†β˜†2024β†’ Residue 115
NM_016006.6(ABHD5):c.774del (p.Ser258fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 258
NM_016006.6(ABHD5):c.285del (p.Phe95fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 95
NC_000003.12:g.43688574_43691430delLikely pathogenic
Triglyceride storage disease with ichthyosis
β˜…β˜†β˜†β˜†2023
NM_016006.6(ABHD5):c.588_591del (p.Trp197fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 197
NM_016006.6(ABHD5):c.133+1G>ALikely pathogenic
ABHD5-related disorder
β˜…β˜†β˜†β˜†2023
NM_016006.6(ABHD5):c.752A>C (p.His251Pro)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 251
NM_016006.6(ABHD5):c.773+1delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_016006.6(ABHD5):c.960+5G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_016006.6(ABHD5):c.836del (p.Gln279fs)Pathogenic
Triglyceride storage disease with ichthyosis|not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 279
NM_016006.6(ABHD5):c.810T>A (p.Tyr270Ter)Pathogenic
Triglyceride storage disease with ichthyosis
β˜…β˜†β˜†β˜†2020β†’ Residue 270
NM_016006.6(ABHD5):c.591G>A (p.Trp197Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 197
NM_016006.6(ABHD5):c.340C>T (p.Arg114Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 114
View on ClinVar β†—
Related Genes
MGLLProtein interaction94%ALOXE3Protein interaction92%PLIN2Protein interaction92%PLIN1Protein interaction92%PNPLA4Protein interaction92%LIPEProtein interaction90%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
65%
Lung
44%
Brain
41%
Liver
23%
Ovary
9%
Gene Interaction Network
Click a node to explore
ABHD5MGLLALOXE3PLIN2PLIN1PNPLA4LIPE
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8WTS1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.92LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.68 [0.50–0.92]
RankingsWhere ABHD5 stands among ~20K protein-coding genes
  • #6,127of 20,598
    Most Researched77
  • #1,754of 5,498
    Most Pathogenic Variants32
  • #8,473of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedABHD5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Adipose Triglyceride Lipase Regulation: An Overview.
PMID: 28925902
Curr Protein Pept Sci Β· 2018
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.90
3
The perilipin family of lipid droplet proteins: Gatekeepers of intracellular lipolysis.
PMID: 28754637
Biochim Biophys Acta Mol Cell Biol Lipids Β· 2017
0.80
4
Adipocyte lipolysis: from molecular mechanisms of regulation to disease and therapeutics.
PMID: 32168372
Biochem J Β· 2020
0.70
5
The lipid droplet-associated protein ABHD5 protects the heart through proteolysis of HDAC4.
PMID: 31742248
Nat Metab Β· 2019
0.60