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MMP2

MMP2

Reviewed November 2013

What is the official name of the MMP2 gene?

The official name of this gene is “matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase).”

MMP2 is the gene's official symbol. The MMP2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the MMP2 gene?

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.

How are changes in the MMP2 gene related to health conditions?

multicentric osteolysis, nodulosis, and arthropathy - caused by mutations in the MMP2 gene

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.

Where is the MMP2 gene located?

Cytogenetic Location: 16q13-q21

Molecular Location on chromosome 16: base pairs 55,479,168 to 55,506,673

The MMP2 gene is located on the long (q) arm of chromosome 16 between positions 13 and 21.

The MMP2 gene is located on the long (q) arm of chromosome 16 between positions 13 and 21.

More precisely, the MMP2 gene is located from base pair 55,479,168 to base pair 55,506,673 on chromosome 16.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about MMP2?

You and your healthcare professional may find the following resources about MMP2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the MMP2 gene or gene products?

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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding MMP2?

basement membranes ; bone remodeling ; breakdown ; collagen ; endometrium ; enzyme ; extracellular ; extracellular matrix ; gene ; inflammation ; inherited ; joint ; menstruation ; protein ; syndrome ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (8 links)

 

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? in the Handbook.

 
Reviewed: November 2013
Published: October 20, 2014