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The official name of this gene is “matrix metallopeptidase 20.”
MMP20 is the gene's official symbol. The MMP20 gene is also known by other names, listed below.
The MMP20 gene provides instructions for making a protein called enamelysin, which is essential for normal tooth development. Enamelysin is involved in the formation of enamel, which is the hard, white material that forms the protective outer layer of each tooth. Enamel is composed mainly of mineral-containing crystals. These microscopic crystals are arranged in organized bundles that give enamel its strength and durability.
Certain proteins are needed to shape and organize the crystals as they form, but these proteins must be removed for enamel to harden normally. Enamelysin cuts (cleaves) other proteins involved in enamel formation, such as amelogenin and ameloblastin, into smaller pieces. Cleavage of these proteins makes them easier to remove when they are no longer needed.
At least two mutations in the MMP20 gene have been identified in people with an autosomal recessive form of amelogenesis imperfecta. Autosomal recessive inheritance means that two copies of the MMP20 gene in each cell are altered. Each of the known mutations alters a single DNA building block (base pair) in a critical region of the MMP20 gene, preventing cells from producing any functional enamelysin. Without this protein, amelogenin and other proteins are not cleaved properly during enamel formation. The resulting enamel is soft and has an abnormal crystal structure. Teeth with this defective enamel are abnormally rough, discolored, and prone to breakage.
Cytogenetic Location: 11q22.3
Molecular Location on chromosome 11: base pairs 102,576,834 to 102,625,331
The MMP20 gene is located on the long (q) arm of chromosome 11 at position 22.3.
More precisely, the MMP20 gene is located from base pair 102,576,834 to base pair 102,625,331 on chromosome 11.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about MMP20 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
amelogenesis ; autosomal ; autosomal recessive ; base pair ; cell ; critical region ; DNA ; enamel ; gene ; inheritance ; mineral ; protein ; recessive
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.