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MMP14

MMP14

Reviewed December 2013

What is the official name of the MMP14 gene?

The official name of this gene is “matrix metallopeptidase 14 (membrane-inserted).”

MMP14 is the gene's official symbol. The MMP14 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 MMP14 gene?

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 types of cells. It normally helps modify and break down various components of the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. These changes influence many cell activities and functions. For example, they have been shown to promote cell growth, stimulate cell movement (migration), and trigger the formation of new blood vessels (angiogenesis).

Matrix metallopeptidase 14 also turns on (activates) a protein called matrix metallopeptidase 2 in the extracellular matrix. The activity of matrix metallopeptidase 2 appears to be important for a variety of body functions, including bone remodeling, which is a normal process in which old bone is broken down and new bone is created to replace it.

Although most research has focused on the role of matrix metallopeptidase 14 in the extracellular matrix, studies suggest that it may also be involved in signaling pathways within cells. Little is known about this function of the enzyme.

How are changes in the MMP14 gene related to health conditions?

Winchester syndrome - caused by mutations in the MMP14 gene

At least one mutation in the MMP14 gene has been found to cause Winchester syndrome, a rare inherited bone disease that is characterized by a loss of bone tissue (osteolysis), particularly in the hands and feet, as well as joint and skin abnormalities. The mutation changes a single protein building block (amino acid) in matrix metallopeptidase 14. Specifically, it replaces the amino acid threonine with the amino acid arginine at position 17 (written as Thr17Arg or T17R).

The identified mutation alters matrix metallopeptidase 14 so that less of the enzyme is able to reach the cell surface. As a result, not enough of the enzyme is available to break down components of the extracellular matrix and activate matrix metallopeptidase 2. It is unclear how a shortage of this enzyme leads to the signs and symptoms of Winchester syndrome. It is possible that a loss of matrix metallopeptidase 2 activation somehow disrupts the balance of new bone creation and the breakdown of existing bone during bone remodeling, causing a progressive loss of bone tissue. How a reduced amount of matrix metallopeptidase 14 leads to the other features of Winchester syndrome is unknown.

Where is the MMP14 gene located?

Cytogenetic Location: 14q11.2

Molecular Location on chromosome 14: base pairs 22,836,532 to 22,847,599

The MMP14 gene is located on the long (q) arm of chromosome 14 at position 11.2.

The MMP14 gene is located on the long (q) arm of chromosome 14 at position 11.2.

More precisely, the MMP14 gene is located from base pair 22,836,532 to base pair 22,847,599 on chromosome 14.

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

Where can I find additional information about MMP14?

You and your healthcare professional may find the following resources about MMP14 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 MMP14 gene or gene products?

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

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 MMP14?

amino acid ; angiogenesis ; arginine ; bone remodeling ; breakdown ; cell ; collagen ; enzyme ; extracellular ; extracellular matrix ; gene ; inherited ; joint ; metalloprotease ; mutation ; protein ; syndrome ; threonine ; tissue

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

See also Understanding Medical Terminology.

References (5 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: December 2013
Published: December 22, 2014