Reviewed May 2015
What is the official name of the MMP20 gene?
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.
What is the normal function of the MMP20 gene?
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 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.
How are changes in the MMP20 gene related to health conditions?
- amelogenesis imperfecta - caused by mutations in the MMP20 gene
At least seven mutations in the MMP20 gene have been identified in people with an autosomal recessive form of a disorder of tooth development called amelogenesis imperfecta. Autosomal recessive inheritance means that two copies of the MMP20 gene in each cell are altered. The MMP20 gene mutations involved in this condition prevent cells from producing functional enamelysin. Without this protein's function, amelogenin and other proteins are not cleaved during enamel formation. Because these proteins remain in the enamel, it does not harden during its 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.
Where is the MMP20 gene located?
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.
Where can I find additional information about MMP20?
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.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28MMP20%5BTIAB%5D%29%20OR%20%28%28enamelysin%5BTIAB%5D%29%20OR%20%28matrix%20metalloproteinase%2020%5BTIAB%5D%29%20OR%20%28MMP-20%5BTIAB%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/604629)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_MMP20.html)
- HGNC Gene Family: Matrix metallopeptidases (http://www.genenames.org/cgi-bin/genefamilies/set/891)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=7167)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9313)
What other names do people use for the MMP20 gene or gene products?
- enamel metalloproteinase
- matrix metallopeptidase 20 (enamelysin)
- matrix metalloproteinase 20
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding MMP20?
autosomal recessive ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Gasse B, Karayigit E, Mathieu E, Jung S, Garret A, Huckert M, Morkmued S, Schneider C, Vidal L, Hemmerlé J, Sire JY, Bloch-Zupan A. Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta. J Dent Res. 2013 Jul;92(7):598-603. doi: 10.1177/0022034513488393. Epub 2013 Apr 26. (http://www.ncbi.nlm.nih.gov/pubmed/23625376?dopt=Abstract)
- Iwata T, Yamakoshi Y, Hu JC, Ishikawa I, Bartlett JD, Krebsbach PH, Simmer JP. Processing of ameloblastin by MMP-20. J Dent Res. 2007 Feb;86(2):153-7. (http://www.ncbi.nlm.nih.gov/pubmed/17251515?dopt=Abstract)
- Khan F, Liu H, Reyes A, Witkowska HE, Martinez-Avila O, Zhu L, Li W, Habelitz S. The proteolytic processing of amelogenin by enamel matrix metalloproteinase (MMP-20) is controlled by mineral ions. Biochim Biophys Acta. 2013 Mar;1830(3):2600-7. (http://www.ncbi.nlm.nih.gov/pubmed/23201201?dopt=Abstract)
- Kim JW, Simmer JP, Hart TC, Hart PS, Ramaswami MD, Bartlett JD, Hu JC. MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. J Med Genet. 2005 Mar;42(3):271-5. (http://www.ncbi.nlm.nih.gov/pubmed/15744043?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9313)
- Ozdemir D, Hart PS, Ryu OH, Choi SJ, Ozdemir-Karatas M, Firatli E, Piesco N, Hart TC. MMP20 active-site mutation in hypomaturation amelogenesis imperfecta. J Dent Res. 2005 Nov;84(11):1031-5. (http://www.ncbi.nlm.nih.gov/pubmed/16246936?dopt=Abstract)
- Simmer JP, Hu JC. Expression, structure, and function of enamel proteinases. Connect Tissue Res. 2002;43(2-3):441-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12489196?dopt=Abstract)
- Turk BE, Lee DH, Yamakoshi Y, Klingenhoff A, Reichenberger E, Wright JT, Simmer JP, Komisarof JA, Cantley LC, Bartlett JD. MMP-20 is predominately a tooth-specific enzyme with a deep catalytic pocket that hydrolyzes type V collagen. Biochemistry. 2006 Mar 28;45(12):3863-74. (http://www.ncbi.nlm.nih.gov/pubmed/16548514?dopt=Abstract)
- Wang SK, Hu Y, Simmer JP, Seymen F, Estrella NM, Pal S, Reid BM, Yildirim M, Bayram M, Bartlett JD, Hu JC. Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing. J Dent Res. 2013 Mar;92(3):266-71. doi: 10.1177/0022034513475626. Epub 2013 Jan 25. (http://www.ncbi.nlm.nih.gov/pubmed/23355523?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.