MMP20 Antibody – Rabbit Polyclonal

Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011]

MMP20: Degrades 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. Defects in MMP20 are the cause of amelogenesis imperfecta hypomaturation type 2A2 (AI2A2). AI2A2 is an autosomal recessive 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. Belongs to the peptidase M10A family.

Protein type: Secreted, signal peptide; Protease; EC 3.4.24.-; Secreted

Chromosomal Location of Human Ortholog: 11q22.3

Cellular Component: proteinaceous extracellular matrix; extracellular space; extracellular region

Molecular Function: protein binding; zinc ion binding; metalloendopeptidase activity; calcium ion binding

Biological Process: extracellular matrix disassembly; collagen catabolic process; extracellular matrix organization and biogenesis; protein catabolic process; proteolysis

Disease: Amelogenesis Imperfecta, Hypomaturation Type, Iia2