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MMP14 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MMP14 gene

The MMP14 gene provides instructions for creating an enzyme that regulates the extracellular matrix, influencing cell growth, movement, and bone remodeling.

Normal Function

The MMP14 gene (also known as MT1-MMP) provides instructions for making an enzyme called matrix metallopeptidase 14. This enzyme is found on the surface of many cell types and helps modify and break down components of the extracellular matrix—the lattice of proteins and molecules in the spaces between cells.

These modifications influence cell activities, including growth, migration, and the formation of new blood vessels (angiogenesis). Additionally, matrix metallopeptidase 14 activates matrix metallopeptidase 2, which is important for processes such as bone remodeling.

Health Conditions Related to Genetic Changes

Winchester syndrome

At least one mutation in the MMP14 gene has been found to cause Winchester syndrome, a rare inherited bone disease characterized by the loss of bone tissue (osteolysis), particularly in the hands and feet, as well as joint and skin abnormalities.

The mutation (Thr17Arg) alters the enzyme so that less of it reaches the cell surface. This reduction prevents the proper breakdown of the extracellular matrix and the activation of matrix metallopeptidase 2. Researchers believe this disruption in bone remodeling leads to the progressive loss of bone tissue, though the exact mechanism causing other features of the syndrome remains unknown.

Other Names for This Gene

  • matrix metallopeptidase 14 (membrane-inserted)
  • matrix metalloproteinase-14
  • matrix metalloproteinase-14 preproprotein
  • membrane type 1 metalloprotease
  • membrane-type-1 matrix metalloproteinase
  • MMP-14
  • MMP-X1
  • MMP14_HUMAN
  • MT-MMP
  • MT-MMP 1
  • MT1-MMP
  • MT1MMP
  • MTMMP1
  • WNCHRS

Frequently Asked Questions

Key clues include progressive osteolysis of the hands and feet, joint contractures, thickened skin, facial coarsening, and recurrent respiratory infections. Radiographs typically show loss of cortical bone and widening of metaphyses. When these signs appear together, especially with a family history, genetic testing for MMP14 mutations is warranted.
Currently, therapy is largely supportive. Bisphosphonates have been tried to reduce bone resorption, but evidence is limited. Physical therapy helps maintain joint range of motion, and orthopedic surgery may be needed for severe deformities. Ongoing research into enzyme‑replacement or gene‑editing strategies is experimental and not yet clinically available.
Regular assessments include: (1) clinical exam of joint mobility and skin changes every 6–12 months; (2) serial X‑rays or low‑dose CT of the hands, feet, and long bones to track osteolysis; (3) bone density testing (DEXA) annually; and (4) pulmonary function tests if respiratory involvement is present. Laboratory markers such as alkaline phosphatase may provide adjunctive information but are not disease‑specific.
Since Winchester syndrome is autosomal recessive, each pregnancy carries a 25 % risk of an affected child. Couples can consider pre‑implantation genetic diagnosis (PGD) with IVF to select embryos without the mutation, or prenatal testing (CVS or amniocentesis) with targeted MMP14 analysis. A genetic counselor should discuss these options, as well as the variable severity of the disease, before family planning.
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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