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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ADAM30
ADAM metallopeptidase domain 30
Chromosome 1 · 1p12
NCBI Gene: 11085Ensembl: ENSG00000134249.7HGNC: HGNC:208UniProt: Q8TBZ7
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
metalloendopeptidase activityproteolysismale gonad developmentplasma membranediabetes mellitusdiabetic neuropathytinea unguiumtype 2 diabetes mellitus
✦AI Summary

ADAM30 is a metalloprotease belonging to the ADAM (A disintegrin and metalloprotease) family that plays a crucial role in amyloid precursor protein (APP) metabolism and neurological processes 1. The primary function involves lysosomal APP processing, where ADAM30 cleaves and activates cathepsin D (CTSD), leading to APP degradation and reduced amyloid-β (Aβ) peptide production 1. This mechanism requires both CTSD activation and APP sorting to lysosomes 1. ADAM30 expression is significantly decreased (~50%) in Alzheimer's disease brains, inversely correlating with amyloid load 1. In transgenic Alzheimer's mouse models, neuronal ADAM30 overexpression reduces Aβ42 secretion, lowers brain amyloid plaque burden, enhances CTSD activity, and rescues long-term potentiation deficits 1. ADAM30 shows testis-specific expression and maps to human chromosome 1-13 2. The protein has been identified as a potential therapeutic target for Alzheimer's disease alongside other ADAM family members 3. Additionally, ADAM30 may serve as a biomarker in endometrial carcinoma, where it is overexpressed in cancer tissues 4, and has been identified as a possible target protein for prostate cancer aptamers 5.

Sources cited
1
ADAM30 plays a role in lysosomal APP processing by cleaving and activating CTSD, leading to APP degradation and reduced Aβ production
PMID: 27333034
2
ADAM30 expression is decreased 50% in Alzheimer's disease brains and inversely correlates with amyloid load
PMID: 27333034
3
ADAM30 overexpression in transgenic mice reduces Aβ42 secretion, amyloid plaques, and rescues long-term potentiation
PMID: 27333034
4
ADAM30 shows testis-specific expression and maps to human chromosome 1p11-13
PMID: 10512762
5
ADAM30 is a potential drug target for Alzheimer's disease
PMID: 31236626
6
ADAM30 is overexpressed in endometrial cancer tissues and may serve as a biomarker
PMID: 36187339
7
ADAM30 identified as a possible target protein for prostate cancer aptamers
PMID: 38763045
Disease Associationsⓘ20
diabetes mellitusOpen Targets
0.34Weak
diabetic neuropathyOpen Targets
0.32Weak
tinea unguiumOpen Targets
0.26Weak
type 2 diabetes mellitusOpen Targets
0.23Weak
glaucomaOpen Targets
0.15Weak
type 1 diabetes mellitusOpen Targets
0.12Weak
diabetic eye diseaseOpen Targets
0.12Weak
neutropeniaOpen Targets
0.11Weak
Decreased total leukocyte countOpen Targets
0.11Weak
Crohn's diseaseOpen Targets
0.11Weak
Abnormality of limbsOpen Targets
0.07Suggestive
ocular hypotensionOpen Targets
0.06Suggestive
breast carcinomaOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
Abnormal sperm morphologyOpen Targets
0.02Suggestive
amyloidosisOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
carcinomaOpen Targets
0.00Suggestive
clear cell adenocarcinomaOpen Targets
0.00Suggestive
gastric carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPAM1Protein interaction86%ADAM21Protein interaction79%ADAM20Protein interaction79%ADAM2Protein interaction69%ADAM29Shared pathway67%ADAM32Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
50%
Ovary
0%
Liver
0%
Heart
0%
Lung
0%
Gene Interaction Network
Click a node to explore
ADAM30SPAM1ADAM21ADAM20ADAM2ADAM29ADAM32
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TBZ7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.90LoF Tolerant
pLIⓘ
0.15Tolerant
Observed/Expected LoF1.14 [0.28–1.90]
RankingsWhere ADAM30 stands among ~20K protein-coding genes
  • #15,480of 20,598
    Most Researched15
  • #17,286of 17,882
    Most Constrained (LOEUF)1.90
Genes detectedADAM30
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Functions of 'A disintegrin and metalloproteases (ADAMs)' in the mammalian nervous system.
PMID: 31236626
Cell Mol Life Sci · 2019
1.00
2
Unveiling the characteristics of D4 and R4 aptamers for their future use in prostate cancer clinical practice.
PMID: 38763045
Biophys Chem · 2024
0.90
3
ADAM30 Downregulates APP-Linked Defects Through Cathepsin D Activation in Alzheimer's Disease.
PMID: 27333034
EBioMedicine · 2016
0.80
4
Systematic Analysis of Tumor Microenvironment Patterns and Oxidative Stress Characteristics of Endometrial Carcinoma Mediated by 5-Methylcytosine Regulators.
PMID: 36187339
Oxid Med Cell Longev · 2022
0.70
5
Comprehensive mutation screening for 10 genes in Chinese patients suffering very early onset inflammatory bowel disease.
PMID: 27350736
World J Gastroenterol · 2016
0.60