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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ADAM23
ADAM metallopeptidase domain 23
Chromosome 2 · 2q33.3
NCBI Gene: 8745Ensembl: ENSG00000114948.13HGNC: HGNC:202UniProt: E7EWD3
45PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingproteolysismetalloendopeptidase activitypresynaptic membranetonsillitisalcohol drinkingcirrhosis of liverdisorder of pharynx
✦AI Summary

ADAM23 is a non-catalytic transmembrane metalloprotease-like protein predominantly expressed in the nervous system that functions as a synaptic adhesion molecule and trans-synaptic bridge 1. As a presynaptic protein, ADAM23 interacts with the secreted ligand LGI1 to modulate neuronal excitability and excitatory neurotransmission 2. Activity-driven translocation of LGI1 through its binding to ADAM23 facilitates trans-synaptic connections that adjust glutamatergic transmission proportionally to synaptic firing history 3. ADAM23 expression is developmentally regulated, with isoforms showing distinct temporal patterns during brain development, suggesting roles in neural development and synaptogenesis 4. The protein undergoes constitutive endocytosis and recycling with extended plasma membrane stability, supporting its receptor functions 5. Genetically, biallelic ADAM23 variants cause neonatal-onset epilepsy and myopathy, while genetic variants are associated with early neurological instability after ischemic stroke through excitotoxicity mechanisms 62. Beyond neurology, ADAM23 promoter hypermethylation occurs in colorectal and other cancers, suggesting tumor suppressor functions in cell adhesion and matrix interactions 7. These findings establish ADAM23 as a critical synaptic mediator of neuronal excitability with clinical relevance to epilepsy, stroke recovery, and cancer progression.

Sources cited
1
ADAM23 drives genetic association with early neurological instability after ischemic stroke and is a presynaptic protein involved in synaptic excitability
PMID: 35213696
2
ADAM23 interacts with LGI1 in activity-driven trans-synaptic translocation that modulates excitatory neurotransmission
PMID: 38700985
3
Multiple ADAM23 isoforms are expressed in brain with developmental regulation patterns suggesting roles in brain development
PMID: 14697522
4
ADAM23 is a non-proteolytic ADAM with key functions in synaptic transmission and neural development linked to epilepsy
PMID: 31236626
5
Biallelic ADAM23 variants cause neonatal-onset epilepsy and myopathy through disruption of LGI1-ADAM22/23 pathway
PMID: 40455867
6
ADAM23 promoter hypermethylation occurs in colorectal cancer and relates to reduced expression
PMID: 19089928
7
ADAM23 undergoes constitutive endocytosis and recycling with extended half-life supporting its receptor functions
PMID: 33296662
8
ADAM23 is highly expressed in mouse brain and has structural features suggesting integrin receptor function
PMID: 10433968
Disease Associationsⓘ20
tonsillitisOpen Targets
0.34Weak
alcohol drinkingOpen Targets
0.31Weak
cirrhosis of liverOpen Targets
0.29Weak
disorder of pharynxOpen Targets
0.28Weak
upper respiratory tract disorderOpen Targets
0.27Weak
lymphatic system diseaseOpen Targets
0.26Weak
retinal edemaOpen Targets
0.26Weak
biliary tract diseaseOpen Targets
0.25Weak
cervical carcinomaOpen Targets
0.23Weak
sialadenitisOpen Targets
0.23Weak
ovarian dysfunctionOpen Targets
0.22Weak
Abnormality of the skeletal systemOpen Targets
0.20Weak
obesityOpen Targets
0.14Weak
Hypomaturation amelogenesis imperfectaOpen Targets
0.09Suggestive
Hypoplastic amelogenesis imperfectaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
psoriasisOpen Targets
0.08Suggestive
cardiac hypertrophyOpen Targets
0.08Suggestive
amelogenesis imperfectaOpen Targets
0.08Suggestive
astrocytomaOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LGI3Protein interaction93%LGI2Protein interaction92%DLG4Protein interaction81%LGI4Protein interaction80%ADAM22Protein interaction73%CACNG2Protein interaction72%
Tissue Expression6 tissues
Heart
100%
Brain
48%
Ovary
5%
Bone Marrow
4%
Lung
2%
Liver
1%
Gene Interaction Network
Click a node to explore
ADAM23LGI3LGI2DLG4LGI4ADAM22CACNG2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O75077
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.42Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.31 [0.23–0.42]
RankingsWhere ADAM23 stands among ~20K protein-coding genes
  • #9,408of 20,598
    Most Researched45
  • #2,180of 17,882
    Most Constrained (LOEUF)0.42 · top quartile
Genes detectedADAM23
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Multi-ancestry GWAS reveals excitotoxicity associated with outcome after ischaemic stroke.
PMID: 35213696
Brain · 2022
1.00
2
Activity-driven synaptic translocation of LGI1 controls excitatory neurotransmission.
PMID: 38700985
Cell Rep · 2024
0.90
3
Two novel isoforms of Adam23 expressed in the developmental process of mouse and human brains.
PMID: 14697522
Gene · 2004
0.80
4
Functions of 'A disintegrin and metalloproteases (ADAMs)' in the mammalian nervous system.
PMID: 31236626
Cell Mol Life Sci · 2019
0.70
5
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway.
PMID: 40455867
Brain · 2025
0.60