MMP20

  • OMIM: 604 629
  • UniProt: O60882
  • MGI: 1353466

Matrix metallopeptidase 20 ( enamelysin ), also known as MMP20, is a peptidase, found in all eukaryotes and in humans, the amelogenin proteins tooth, aggrecan and COMP degrades. Mutations in the MMP20 gene can lead to amelogenesis imperfecta.

Proteins of the matrix metalloproteinase (MMP ) family are involved in the digestion of the extracellular matrix and exercise their functions in numerous physiological processes, such as in the context of embryonic development, reproduction, tissue remodeling as well as in disease processes such as arthritis and tumor metastasis. The Most MMPs as inactive precursor protein removed from the cell and activated by cleavage processes by extracellular proteinases. The protein described here degrades amelogenin, the major protein of the enamel matrix. It is believed, therefore, that it plays a role in enamel formation. A mutation of the gene for MMP20, which interferes with the normal splicing of the MMP20 mRNA and causes the translation is terminated prematurely, was associated with a form of Amelogenesis imperfecta. MMP20 belongs to a group of a gene cluster of various MMP genes on chromosome 11q22.3.

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