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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACHE
acetylcholinesterase (Yt blood group)
Chromosome 7 · 7q22.1
NCBI Gene: 43Ensembl: ENSG00000087085.17HGNC: HGNC:108UniProt: P22303
235PubMed Papers
20Diseases
31Drugs
0Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindinglaminin bindingosteoblast developmentacetylcholine catabolic processAlzheimer diseasedementiaParkinson diseaseMyasthenia gravis
✦AI Summary

Acetylcholinesterase (ACHE) is a serine hydrolase that rapidly hydrolyzes the neurotransmitter acetylcholine in synaptic clefts, thereby terminating signal transduction at neuromuscular junctions 1. This enzymatic activity is fundamental to proper functioning of both peripheral and central nervous systems 1. Beyond its primary catalytic role, ACHE has been identified as a component of nitric oxide signal transduction pathways, particularly in red blood cell membranes, suggesting broader physiological functions 2. The enzyme serves as a biomarker and prognostic factor for various diseases, with erythrocyte ACHE activity correlating with clinical parameters across multiple pathological conditions 2. ACHE shows significant disease relevance in Alzheimer's disease, where genetic variants such as rs1799806/ACHE demonstrate association with disease pathogenesis and affect gene expression in brain regions through expression quantitative trait loci (eQTL) mechanisms 3. The clinical significance of ACHE extends beyond neurological disorders, as its activity levels in red blood cells provide valuable diagnostic and prognostic information across various disease states, making it a versatile clinical biomarker 2.

Sources cited
1
ACHE is fundamental to peripheral and central nervous system function as a cholinesterase
PMID: 34439787
2
ACHE functions in nitric oxide signaling and serves as a biomarker for various diseases
PMID: 28885588
3
ACHE genetic variants are associated with Alzheimer's disease pathogenesis
PMID: 37544578
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.63Moderate
dementiaOpen Targets
0.63Moderate
Parkinson diseaseOpen Targets
0.61Moderate
Myasthenia gravisOpen Targets
0.59Moderate
glaucomaOpen Targets
0.54Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
dyspepsiaOpen Targets
0.51Moderate
poisoningOpen Targets
0.51Moderate
Abnormality of the skeletal systemOpen Targets
0.48Moderate
gastrointestinal diseaseOpen Targets
0.46Moderate
vascular dementiaOpen Targets
0.40Weak
Cognitive impairmentOpen Targets
0.39Weak
deliriumOpen Targets
0.39Weak
depressive disorderOpen Targets
0.38Weak
major depressive disorderOpen Targets
0.38Weak
open-angle glaucomaOpen Targets
0.37Weak
Abdominal distentionOpen Targets
0.37Weak
muscle crampOpen Targets
0.37Weak
skin cancerOpen Targets
0.33Weak
brain injuryOpen Targets
0.33Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets31
ACOTIAMIDEApproved
Acetylcholinesterase inhibitor
gastrointestinal disease
ACOTIAMIDE HYDROCHLORIDEApproved
Acetylcholinesterase inhibitor
Abdominal distention
AMBENONIUMApproved
Acetylcholinesterase inhibitor
Myasthenia gravis
BENZGALANTAMINEUNKNOWN
Acetylcholinesterase inhibitor
Mental deterioration
BENZGALANTAMINE GLUCONATEApproved
Acetylcholinesterase inhibitor
dementia
DEMECARIUMApproved
Acetylcholinesterase inhibitor
glaucoma
DEMECARIUM BROMIDEApproved
Acetylcholinesterase inhibitor
open-angle glaucoma
DONEPEZILApproved
Acetylcholinesterase inhibitor
Alzheimer disease
DONEPEZIL HYDROCHLORIDEApproved
Acetylcholinesterase inhibitor
Alzheimer disease
ECHOTHIOPHATEApproved
Acetylcholinesterase inhibitor
glaucoma
ECHOTHIOPHATE IODIDEApproved
Acetylcholinesterase inhibitor
EDROPHONIUMApproved
Acetylcholinesterase inhibitor
Myasthenia gravis
GALANTAMINEApproved
Acetylcholinesterase inhibitor
Alzheimer disease
GALANTAMINE HYDROBROMIDEApproved
Acetylcholinesterase inhibitor
dementia
HEXAFLUORENIUM BROMIDEApproved
Acetylcholinesterase inhibitor
muscle cramp
HUPERZINE AApproved
Acetylcholinesterase inhibitor
Alzheimer disease
ISOFLUROPHATEApproved
Acetylcholinesterase inhibitor
ITOPRIDEApproved
Dopamine D2 receptor antagonist
gastrointestinal disease
MINAPRINEApproved
Dopamine D1 and D2 receptor agonist
depressive disorder
MINAPRINE HYDROCHLORIDEUNKNOWN
Dopamine D1 and D2 receptor agonist
NEOSTIGMINEApproved
Acetylcholinesterase inhibitor
Myasthenia gravis
NEOSTIGMINE METHYLSULFATEApproved
Acetylcholinesterase inhibitor
Myasthenia gravis
PHYSOSTIGMINEApproved
Acetylcholinesterase inhibitor
glaucoma
PRALIDOXIMEPhase III
Acetylcholinesterase activator
organophosphate poisoning
PRALIDOXIME CHLORIDEApproved
Acetylcholinesterase activator
poisoning
PROPANIDIDUNKNOWN
Acetylcholinesterase inhibitor
PYRIDOSTIGMINEApproved
Acetylcholinesterase inhibitor
Myasthenia gravis
PYRIDOSTIGMINE BROMIDEApproved
Acetylcholinesterase inhibitor
Myasthenia gravis
RIVASTIGMINEApproved
Cholinesterases; ACHE & BCHE inhibitor
Parkinson disease
RIVASTIGMINE TARTRATEApproved
Cholinesterases; ACHE & BCHE inhibitor
Parkinson disease
TACRINEApproved
Cholinesterases; ACHE & BCHE inhibitor
Alzheimer disease
Related Genes
APPProtein interaction100%MAPTProtein interaction99%MUSKProtein interaction99%DOK7Protein interaction98%PSEN1Protein interaction96%HSPG2Protein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
17%
Ovary
14%
Lung
10%
Liver
9%
Heart
4%
Gene Interaction Network
Click a node to explore
ACHEAPPMAPTMUSKDOK7PSEN1HSPG2
PROTEIN STRUCTURE
Preparing viewer…
PDB4M0E · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.55Moderately Constrained
pLIⓘ
0.81Intermediate
Observed/Expected LoF0.37 [0.26–0.55]
RankingsWhere ACHE stands among ~20K protein-coding genes
  • #1,682of 20,598
    Most Researched235 · top 10%
  • #55of 1,025
    FDA-Approved Drug Targets27 · top 10%
  • #3,481of 17,882
    Most Constrained (LOEUF)0.55 · top quartile
Genes detectedACHE
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Pulpal pain diagnosis--a review.
PMID: 11199715
J Endod · 2000
1.00
2
Cholinesterase Research.
PMID: 34439787
Biomolecules · 2021
0.90
3
Syncope and Headache.
PMID: 29904895
Curr Pain Headache Rep · 2018
0.80
4
Choline-acetyltransferase (ChAT) and acetylcholinesterase (AChE) in the human infant dorsal motor nucleus of the Vagus (DMNV), and alterations according to sudden infant death syndrome (SIDS) category.
PMID: 37813167
Neurobiol Dis · 2023
0.76
5
Modeling neuropathic pain in a dish.
PMID: 39580214
Int Rev Neurobiol · 2024
0.70