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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ABHD17B
abhydrolase domain containing 17B, depalmitoylase
Chromosome 9 · 9q21.13
NCBI Gene: 51104Ensembl: ENSG00000107362.15HGNC: HGNC:24278UniProt: A0A384MEH9
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
palmitoyl-(protein) hydrolase activitymembraneprotein depalmitoylationpositive regulation of protein localization to endosomemalignant renal pelvis neoplasmovarian dysfunctionFuchs endothelial corneal dystrophyFamilial ocular anterior segment mesenchymal dysgenesis
✦AI Summary

ABHD17B is a depalmitoylase enzyme that removes palmitate from S-acylated cysteine residues in proteins, regulating their subcellular localization and function 1. The enzyme demonstrates substrate specificity, with confirmed depalmitoylating activity towards multiple proteins including N-Ras, DLG4/PSD95, and NOD2 12. ABHD17B functions as part of a broader family of ABHD17 proteins (A, B, C) that collectively regulate the palmitoylation cycle of membrane-associated proteins, particularly at the plasma membrane 3. The enzyme plays critical roles in cellular processes including protein trafficking, membrane localization, and signal transduction. In disease contexts, ABHD17B has emerged as a potential therapeutic target across multiple conditions. In hepatic stellate cells, ABHD17B depletion promotes cell inactivation and protection from liver fibrosis, suggesting anti-fibrotic properties 4. The enzyme also regulates N-Ras-dependent cancer growth, with selective inhibitors showing promise for treating NRAS-mutant acute myeloid leukemia 3. Additionally, ABHD17B modulates innate immunity by negatively regulating NOD2 function, with inhibition potentially offering therapeutic benefits for Crohn's disease-associated NOD2 variants 2. The enzyme's expression patterns have also been implicated in hepatocellular carcinoma progression and may serve as a biomarker for advanced cirrhosis 56.

Sources cited
1
ABHD17B removes palmitate from S-acylated cysteine residues and has depalmitoylating activity towards N-Ras and DLG4/PSD95
PMID: 26701913
2
ABHD17B family members are responsible for NOD2 deacylation and negatively regulate NOD2 function
PMID: 40054525
3
ABHD17 enzymes regulate plasma membrane palmitoylation and N-Ras-dependent cancer growth
PMID: 33927411
4
ABHD17B depletion promotes hepatic stellate cell inactivation and protects from liver fibrosis
PMID: 40025044
5
ABHD17B expression is regulated by Nur77 and involved in hepatocellular carcinoma progression
PMID: 36192599
6
ABHD17B expression serves as a biomarker for advanced cirrhosis with high risk for portal hypertension
PMID: 36628818
Disease Associationsⓘ20
malignant renal pelvis neoplasmOpen Targets
0.29Weak
ovarian dysfunctionOpen Targets
0.29Weak
Fuchs endothelial corneal dystrophyOpen Targets
0.07Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
major depressive disorderOpen Targets
0.06Suggestive
posterior polymorphous corneal dystrophyOpen Targets
0.06Suggestive
macular corneal dystrophyOpen Targets
0.06Suggestive
early-onset non-syndromic cataractOpen Targets
0.06Suggestive
Persistent pupillary membraneOpen Targets
0.06Suggestive
X-linked endothelial corneal dystrophyOpen Targets
0.06Suggestive
age-related macular degenerationOpen Targets
0.06Suggestive
cataract 50 with or without glaucomaOpen Targets
0.05Suggestive
Peters anomalyOpen Targets
0.05Suggestive
granular corneal dystrophy type IOpen Targets
0.05Suggestive
Cataract-microcornea syndromeOpen Targets
0.05Suggestive
PainOpen Targets
0.05Suggestive
retinitis pigmentosaOpen Targets
0.05Suggestive
lattice corneal dystrophy type IOpen Targets
0.05Suggestive
snowflake vitreoretinal degenerationOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ABHD17CShared pathway72%ABHD17AShared pathway44%TANC1Shared pathway33%LRFN2Shared pathway25%ARHGAP22Shared pathway20%ABHD10Shared pathway20%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
74%
Liver
28%
Heart
21%
Lung
20%
Ovary
17%
Gene Interaction Network
Click a node to explore
ABHD17BABHD17CABHD17ATANC1LRFN2ARHGAP22ABHD10
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5VST6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.58Moderately Constrained
pLIⓘ
0.86Intermediate
Observed/Expected LoF0.33 [0.20–0.58]
RankingsWhere ABHD17B stands among ~20K protein-coding genes
  • #14,625of 20,598
    Most Researched18
  • #3,861of 17,882
    Most Constrained (LOEUF)0.58 · top quartile
Genes detectedABHD17B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
HK1 from hepatic stellate cell-derived extracellular vesicles promotes progression of hepatocellular carcinoma.
PMID: 36192599
Nat Metab · 2022
1.00
2
Screening the human druggable genome identifies ABHD17B as an anti-fibrotic target in hepatic stellate cells.
PMID: 40025044
Nat Commun · 2025
0.90
3
ABHD17 regulation of plasma membrane palmitoylation and N-Ras-dependent cancer growth.
PMID: 33927411
Nat Chem Biol · 2021
0.80
4
Unveiling therapeutic biomarkers and druggable targets in ALS: An integrative microarray analysis, molecular docking, and structural dynamic studies.
PMID: 39299050
Comput Biol Chem · 2024
0.70
5
ABHD17 proteins are novel protein depalmitoylases that regulate N-Ras palmitate turnover and subcellular localization.
PMID: 26701913
Elife · 2015
0.60