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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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MMP20
matrix metallopeptidase 20
Chromosome 11 Β· 11q22.2
NCBI Gene: 9313Ensembl: ENSG00000137674.4HGNC: HGNC:7167UniProt: O60882
49PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
metalloendopeptidase activityprotein bindingextracellular matrix organizationcollagen catabolic processHypomaturation amelogenesis imperfectaamelogenesis imperfectagenetic disorderrecessive amelogenesis imperfecta
✦AI Summary

MMP20 (matrix metallopeptidase 20) is a secreted zinc-dependent metalloendopeptidase essential for dental enamel formation through its proteolytic activity 1. The enzyme degrades amelogenin, the primary enamel matrix protein, and extracellular matrix components including aggrecan and COMP, facilitating enamel hardening and maturation 2. MMP20 serves multiple critical functions beyond protein degradation: it promotes ameloblast retreat during enamel thickening, releases intercellular protein stores into the matrix, and maintains enamel-dentin adhesion 1. Functionally, MMP20 works with kallikrein-related peptidase 4 (KLK4) in overlapping and complementary roles; deficiency in either proteinase causes enamel structural defects with increased fragility 1. Clinically, biallelic MMP20 mutations cause amelogenesis imperfecta, a heritable disorder affecting enamel formation in all teeth 3. Notably, heterozygous mutations combined with KLK4 heterozygosity produce unexpected enamel defects, suggesting digenic effects in disease pathogenesis 1. Beyond dentition, MMP20 participates in extracellular matrix organization and shows roles in oral cancer pathogenesis, where DSPP-MMP20 silencing reduces cancer stem cell markers and increases chemotherapy sensitivity 4. Gene expression profiling of enamel renal syndrome demonstrates MMP20 upregulation alongside biomineralization genes, suggesting involvement in ectopic calcification prevention 5.

Sources cited
1
MMP20 essential for enamel formation; serves multiple functions including protein degradation, ameloblast retreat, intercellular protein release, and enamel-dentin adhesion; works with KLK4 in complementary roles
PMID: 27066511
2
MMP20 mutations cause amelogenesis imperfecta; degrades amelogenin and extracellular matrix components during enamel formation
PMID: 39321764
3
MMP20 mutations are associated with amelogenesis imperfecta, an inherited disorder affecting enamel structure in primary and secondary dentition
PMID: 22538897
4
MMP20 interacts with DSPP in oral squamous cell carcinoma; MMP20 silencing reduces cancer stem cell markers and increases cisplatin sensitivity
PMID: 30002682
5
MMP20 is upregulated in enamel renal syndrome dental pulp tissues alongside other biomineralization genes; involved in ectopic mineralization prevention
PMID: 37159186
Disease Associationsβ“˜21
Hypomaturation amelogenesis imperfectaOpen Targets
0.73Strong
amelogenesis imperfectaOpen Targets
0.57Moderate
genetic disorderOpen Targets
0.41Moderate
recessive amelogenesis imperfectaOpen Targets
0.41Moderate
neuroinflammatory disorderOpen Targets
0.36Weak
breast diseaseOpen Targets
0.28Weak
tympanic membrane perforationOpen Targets
0.28Weak
prostate carcinomaOpen Targets
0.23Weak
prostate cancerOpen Targets
0.23Weak
central nervous system infectionOpen Targets
0.20Weak
intellectual disability, autosomal dominant 56Open Targets
0.12Weak
schizophreniaOpen Targets
0.11Weak
Hypoplastic amelogenesis imperfectaOpen Targets
0.11Weak
tooth agenesisOpen Targets
0.08Suggestive
dentin dysplasia type IOpen Targets
0.07Suggestive
amelogenesis imperfecta, type ijOpen Targets
0.07Suggestive
amelogenesis imperfecta hypomaturation type 2A4Open Targets
0.07Suggestive
amelogenesis imperfecta, IIa 1KOpen Targets
0.07Suggestive
dentin dysplasia type IIOpen Targets
0.07Suggestive
amelogenesis imperfecta type 3BOpen Targets
0.07Suggestive
Amelogenesis imperfecta, hypomaturation type, 2A2UniProt
Pathogenic Variants11
NM_004771.4(MMP20):c.954-2A>TPathogenic
Amelogenesis imperfecta hypomaturation type 2A2|not provided|MMP20-related disorder|Gastric cancer|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025
NM_004771.4(MMP20):c.1362C>G (p.Tyr454Ter)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A2
β˜…β˜†β˜†β˜†2023β†’ Residue 454
NM_004771.4(MMP20):c.359dup (p.Asn120fs)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A2
β˜…β˜†β˜†β˜†2023β†’ Residue 120
NM_004771.4(MMP20):c.1126C>T (p.Gln376Ter)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A2
β˜…β˜†β˜†β˜†2023β†’ Residue 376
NM_004771.4(MMP20):c.625G>C (p.Glu209Gln)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A2
β˜…β˜†β˜†β˜†β†’ Residue 209
NM_004771.4(MMP20):c.809_811+12delinsCCAGPathogenic
Amelogenesis imperfecta hypomaturation type 2A2
β˜†β˜†β˜†β˜†2020
NM_004771.4(MMP20):c.1122A>C (p.Gln374His)Pathogenic
Amelogenesis imperfecta hypomaturation type 2A2
β˜†β˜†β˜†β˜†2020β†’ Residue 374
NM_004771.4(MMP20):c.710C>A (p.Ser237Tyr)Pathogenic
Amelogenesis imperfecta hypomaturation type 2A2
β˜†β˜†β˜†β˜†2020β†’ Residue 237
NM_004771.4(MMP20):c.611A>G (p.His204Arg)Pathogenic
Amelogenesis imperfecta hypomaturation type 2A2
β˜†β˜†β˜†β˜†2013β†’ Residue 204
NM_004771.4(MMP20):c.102G>A (p.Trp34Ter)Pathogenic
Amelogenesis imperfecta hypomaturation type 2A2
β˜†β˜†β˜†β˜†2008β†’ Residue 34
NM_004771.4(MMP20):c.678T>A (p.His226Gln)Pathogenic
Amelogenesis imperfecta hypomaturation type 2A2
β˜†β˜†β˜†β˜†2005β†’ Residue 226
View on ClinVar β†—
Related Genes
WDR72Protein interaction97%AMTNProtein interaction78%HPXProtein interaction76%MMP17Shared pathway75%MMP23BShared pathway75%MMP28Shared pathway75%
Tissue Expression6 tissues
Lung
0%
Brain
0%
Bone Marrow
0%
Heart
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
MMP20WDR72AMTNHPXMMP17MMP23BMMP28
PROTEIN STRUCTURE
Preparing viewer…
PDB2JSD Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.20LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.93 [0.73–1.20]
RankingsWhere MMP20 stands among ~20K protein-coding genes
  • #8,976of 20,598
    Most Researched49
  • #2,784of 5,498
    Most Pathogenic Variants11
  • #12,575of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedMMP20
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Developmental Defects of Enamel.
PMID: 39321764
Monogr Oral Sci Β· 2024
1.00
2
Interaction of lifestyle, behaviour or systemic diseases with dental caries and periodontal diseases: consensus report of group 2 of the joint EFP/ORCA workshop on the boundaries between caries and periodontal diseases.
PMID: 28266114
J Clin Periodontol Β· 2017
0.90
3
DSPP-MMP20 gene silencing downregulates cancer stem cell markers in human oral cancer cells.
PMID: 30002682
Cell Mol Biol Lett Β· 2018
0.80
4
Lung development, repair and cancer: A study on the role of MMP20 gene in adenocarcinoma.
PMID: 33914777
PLoS One Β· 2021
0.70
5
FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome.
PMID: 37159186
Int Endod J Β· 2023
0.60