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MMP2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MMP2 gene

The MMP2 gene provides instructions for an enzyme that breaks down structural proteins, playing a critical role in tissue repair, bone remodeling, and reproductive health.

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 resides in the extracellular matrix. A primary function of this enzyme is to cleave type IV collagen, a major structural component of basement membranes that support cells.

The activity of matrix metallopeptidase 2 is essential for several body functions, including:

  • Breakdown of the uterine lining (endometrium) during menstruation
  • Formation and growth of new blood vessels
  • Repair of damaged tissues
  • Inflammation
  • Bone remodeling

Health Conditions Related to Genetic Changes

Multicentric osteolysis, nodulosis, and arthropathy

At least eight mutations in the MMP2 gene cause multicentric osteolysis, nodulosis, and arthropathy (MONA), a rare inherited bone disease. This condition is characterized by the loss of bone tissue (osteolysis), particularly in the hands and feet, and joint problems (arthropathy).

Known mutations eliminate the function of the matrix metallopeptidase 2 enzyme, preventing the normal cleavage of type IV collagen. Researchers suspect this disrupts the balance of bone remodeling, leading to progressive bone loss. The cause of other features, such as firm lumps under the skin (subcutaneous nodules), is currently unknown.

Intervertebral disc disease

The MMP2 gene is also associated with intervertebral disc disease.

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

Frequently Asked Questions

Multicentric osteolysis, nodulosis, and arthropathy (MONA) is a rare inherited condition. It is typically inherited in an autosomal recessive pattern, meaning a child must inherit two copies of the mutated MMP2 gene (one from each parent) to develop the condition. If both parents are carriers (meaning they each have one normal and one mutated copy of the gene), there is a 25% chance with each pregnancy that their child will inherit two mutated copies and develop MONA, a 50% chance the child will be a carrier, and a 25% chance the child will inherit two normal copies and not be affected or a carrier.
The MMP2 gene plays a vital role in breaking down structural proteins and is involved in tissue repair and bone remodeling. While specific mutations in MMP2 cause the rare MONA syndrome, variations in the gene's activity or expression are also associated with more common conditions like intervertebral disc disease and certain forms of arthritis. In these cases, MMP2's normal function in maintaining cartilage and bone health can be disrupted, contributing to degeneration. For individuals with these conditions, understanding MMP2's role can help researchers develop targeted therapies, but it doesn't necessarily mean a direct genetic mutation is the sole cause.
Yes, genetic testing can identify mutations in the MMP2 gene. This typically involves a blood sample for DNA analysis. Testing is usually recommended for individuals who present with symptoms suggestive of MONA, such as progressive osteolysis, arthropathy, and subcutaneous nodules, especially if there is a family history of the condition. Genetic counseling is advised before testing to understand the implications of the results for both the individual and their family members.
Early signs of MONA often involve the bones and joints, particularly in the hands and feet. Parents or clinicians might notice progressive bone loss (osteolysis), joint problems (arthropathy) leading to pain, stiffness, or limited movement, and the development of firm lumps under the skin (subcutaneous nodules). These symptoms can appear in early childhood and worsen over time. A thorough medical evaluation, including imaging studies, is crucial for early diagnosis.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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