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MMP2 gene
URL of this page: https://medlineplus.gov/genetics/gene/mmp2/

MMP2 gene

matrix metallopeptidase 2

Normal Function

The MMP2 gene provides instructions for making an enzyme called matrix metallopeptidase 2. This enzyme is produced in cells throughout the body and becomes part of the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. One of the major known functions of matrix metallopeptidase 2 is to cut (cleave) a protein called type IV collagen. Type IV collagen is a major structural component of basement membranes, which are thin, sheet-like structures that separate and support cells as part of the extracellular matrix.

The activity of matrix metallopeptidase 2 appears to be important for a variety of body functions. These include the breakdown of the uterine lining (endometrium) during menstruation, formation and growth of new blood vessels, repair of damaged tissues, and inflammation. Matrix metallopeptidase 2 also plays a role in bone remodeling, which is a normal process in which old bone is broken down and new bone is created to replace it.

Health Conditions Related to Genetic Changes

Multicentric osteolysis, nodulosis, and arthropathy

At least eight mutations in the MMP2 gene have been found to cause multicentric osteolysis, nodulosis, and arthropathy (MONA), a rare inherited bone disease that is characterized by the loss of bone tissue (osteolysis), particularly in the hands and feet, and related joint problems described as arthropathy. Each of the known MMP2 gene mutations eliminates the function of the matrix metallopeptidase 2 enzyme, preventing the normal cleavage of type IV collagen. It is unclear how a loss of enzyme activity leads to the specific features of MONA. Researchers suspect that it somehow disrupts the balance of new bone creation and the breakdown of existing bone during bone remodeling, resulting in a progressive loss of bone tissue. How a shortage of matrix metallopeptidase 2 leads to other features of MONA, such as firm lumps under the skin (subcutaneous nodules) and skin abnormalities, is unknown.

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Other Names for This Gene

  • 72 kDa gelatinase
  • 72 kDa type IV collagenase
  • CLG4
  • CLG4A
  • collagenase type IV-A
  • gelatinase A
  • matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)
  • matrix metalloproteinase-2
  • matrix metalloproteinase-II
  • MMP-2
  • MMP-II
  • MMP2_HUMAN
  • neutrophil gelatinase
  • TBE-1

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Castberg FC, Kjaergaard S, Mosig RA, Lobl M, Martignetti C, Martignetti JA, Myrup C, Zak M. Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review. Eur J Pediatr. 2013 Dec;172(12):1657-63. doi: 10.1007/s00431-013-2102-8. Epub 2013 Jul 31. Citation on PubMed
  • Martignetti JA, Aqeel AA, Sewairi WA, Boumah CE, Kambouris M, Mayouf SA, Sheth KV, Eid WA, Dowling O, Harris J, Glucksman MJ, Bahabri S, Meyer BF, Desnick RJ. Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Nat Genet. 2001 Jul;28(3):261-5. doi: 10.1038/90100. Citation on PubMed
  • Mosig RA, Dowling O, DiFeo A, Ramirez MC, Parker IC, Abe E, Diouri J, Aqeel AA, Wylie JD, Oblander SA, Madri J, Bianco P, Apte SS, Zaidi M, Doty SB, Majeska RJ, Schaffler MB, Martignetti JA. Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth. Hum Mol Genet. 2007 May 1;16(9):1113-23. doi: 10.1093/hmg/ddm060. Epub 2007 Mar 30. Citation on PubMed or Free article on PubMed Central
  • Rouzier C, Vanatka R, Bannwarth S, Philip N, Coussement A, Paquis-Flucklinger V, Lambert JC. A novel homozygous MMP2 mutation in a family with Winchester syndrome. Clin Genet. 2006 Mar;69(3):271-6. doi: 10.1111/j.1399-0004.2006.00584.x. Citation on PubMed
  • Tuysuz B, Mosig R, Altun G, Sancak S, Glucksman MJ, Martignetti JA. A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects. Eur J Hum Genet. 2009 May;17(5):565-72. doi: 10.1038/ejhg.2008.204. Epub 2008 Nov 5. Citation on PubMed or Free article on PubMed Central
  • Zankl A, Bonafe L, Calcaterra V, Di Rocco M, Superti-Furga A. Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. Clin Genet. 2005 Mar;67(3):261-6. doi: 10.1111/j.1399-0004.2004.00402.x. Citation on PubMed
  • Zankl A, Pachman L, Poznanski A, Bonafe L, Wang F, Shusterman Y, Fishman DA, Superti-Furga A. Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. J Bone Miner Res. 2007 Feb;22(2):329-33. doi: 10.1359/jbmr.061013. Citation on PubMed

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