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FLASH GENE
Symbol MMP20 contributors: mct/pgu - updated : 18-01-2021
HGNC name matrix metalloproteinase 20 (enamelysin)
HGNC id 7167
Corresponding disease
AIPH2 amelogenesis imperfecta, pigmented, hypomaturation type 2
Location 11q22.2      Physical location : 102.447.566 - 102.496.063
Synonym name
  • enamel metalloproteinase
  • enamelysin
  • Synonym symbol(s) MMP-20
    EC.number 3.4.24.-
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text member of the MMP cluster
    STRUCTURE 48.00 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    regionally located clustered with at least seven other MMPs on chromosome 11
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1956 54.4 483 - 2005 15744043
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtooth    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveameloblast Homo sapiens
    Digestiveodontoblast Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text
  • expressed exclusively in tooth-forming cells, in the enamel organ and pulp organ of developing teeth
  • secreted into the enamel matrix of developing teeth
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a cysteine residue essential for latency, and involved in autocatalytic activation
  • a catalytic domain with the zinc-binding site (the cysteine switch)
  • a hemopexin-like C terminal
  • conjugated HemoP , MetalloP
    HOMOLOGY
    Homologene
    FAMILY matrix metalloproteinase (MMP) family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix
    basic FUNCTION
  • regulator of matrix remodeling
  • playing an essential role in normal dental enamel development
  • degradation of amelogenin (component of tooth enamel)
  • involved in the process of tooth enamel formation
  • principle functions of MMP20 and KLK4 in dental enamel formation are to facilitate the orderly replacement of organic matrix with mineral, generating an enamel layer that is harder, less porous, and unstained by retained enamel proteins
  • enzyme that processes ameloblastin during the secretory stage of amelogenesis
  • cleaves CDH1 and influences ameloblast development
  • over-expression of MMP20 results in decreased enamel hardness, and likely few feedback controls are present in the enamel matrix to prevent excessive MMP20 activity
  • MMP20 and KLK4 serve overlapping and complementary functions to harden enamel by removing protein, but MMP20 potentially serves multiple additional functions necessary for the adherence of enamel to dentin and the release of intercellular protein stores into the enamel matrix
  • ameloblasts responsible for enamel formation express MMP20, an enzyme that cleaves enamel matrix proteins, including amelogenin (AMELX) and ameloblastin (AMBN)
  • increased MMP20 activity in molars causes premature degradation of ameloblastin and inactivation of cofilin, which may contribute to pathological Wnt-mediated cell migration away from the enamel layer
  • proteolysis of extracellular enamel matrix proteins by MMP20 is not required for the initial development of the enamel rod structure during the early secretory stage of amelogenesis, but proteolysis by MMP20, however, is essential for the prevention of abnormal crystal formation during amelogenesis
  • MMP20 function during dentin formation
  • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    Zn2+
    protein
  • functional correlations exist between ODAM and MMP20
  • effect of AMELX overexpression in upregulating amelogenins, MMP20 and SATB1, suggests a role in protein regulation critical to ameloblast secretion and matrix processing, to form a mineralized enamel matrix
  • MMP20 activates proKLK4 and KLK4 inactivates MMP20 and these actions are likely to occur during enamel formation
  • cell & other
    REGULATION
    activated by proteinases
    hypoxia (increased expression of the structural enamel matrix genes AMELX, AMBN, and ENAM, and MMP20)
    inhibited by TIMPs and TFPI2
    Other regulated by ODAM (cooperates with RUNX2 to regulate MMP20 and modulate enamel mineralization)
    ASSOCIATED DISORDERS
    corresponding disease(s) AIPH2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    increased MMP20 expression accelerated amelogenin processing during enamel mineralization
    Susceptibility
  • to Molar-Incisor Hypomineralization
  • to dental caries experience in primary dentition
  • Variant & Polymorphism other
  • rs1711399 associated with Molar-Incisor Hypomineralization
  • association between MMP20 rs1784418 C>T and dental caries experience in primary dentition
  • Candidate gene
  • is a new potential candidate for tumor diagnosis or therapy
  • Marker
    Therapy target
    ANIMAL & CELL MODELS