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MGP003857

UniProt Annotations

Entry Information
Gene Namematrix metallopeptidase 20
Protein EntryMMP20_HUMAN
UniProt IDO60882
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityCleaves aggrecan at the 360-Asn-|-Phe-361 site.
CofactorName=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence={ECO:0000269|PubMed:17869250}; Note=Binds 2 calcium ions per subunit. {ECO:0000269|PubMed:17869250};
CofactorName=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000269|PubMed:17869250}; Note=Binds 2 Zn(2+) ions per subunit. {ECO:0000269|PubMed:17869250};
Developmental StageExpression initiates prior to the onset of dentin mineralization and continues throughout the secretory stage of amelogenesis.
DiseaseAmelogenesis imperfecta, hypomaturation type, 2A2 (AI2A2) [MIM:612529]: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. {ECO:0000269|PubMed:15744043}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
FunctionDegrades amelogenin, the major protein component of the enamel matrix and two of the macromolecules characterizing the cartilage extracellular matrix: aggrecan and the cartilage oligomeric matrix protein (COMP). May play a central role in tooth enamel formation. {ECO:0000269|PubMed:10922468, ECO:0000269|PubMed:9398237}.
PtmAutoactivates at least at the 107-Asn-|-Tyr-108 site. {ECO:0000250}.
SimilarityBelongs to the peptidase M10A family. {ECO:0000305}.
SimilarityContains 4 hemopexin repeats. {ECO:0000305}.
Subcellular LocationSecreted, extracellular space, extracellular matrix {ECO:0000250}.
Tissue SpecificityExpressed specifically in the enamel organ.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mmp20/";
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