MMP13

Description

The MMP13 (matrix metallopeptidase 13) is a protein-coding gene located on chromosome 11.

Collagenase 3 is an enzyme encoded by the MMP13 gene in humans. It belongs to the matrix metalloproteinase (MMP) family. Like most MMPs, it is secreted as an inactive pro-form. MMP-13 has a predicted molecular weight around 54 kDa. It is activated once the pro-domain is cleaved, leaving an active enzyme composed of the catalytic domain and the hemopexin-like domain. While the precise mechanism is unknown, the hemopexin domain participates in collagen degradation, with the catalytic domain alone being less efficient in this process. During embryonic development, MMP-13 is expressed in the skeleton, essential for restructuring the collagen matrix for bone mineralization. In pathological situations, such as human carcinomas, rheumatoid arthritis and osteoarthritis, it is significantly overexpressed. Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases.

MMP13 plays a role in the degradation of extracellular matrix proteins including fibrillar collagen, fibronectin, TNC and ACAN. It cleaves triple helical collagens, including type I, type II and type III collagen, but has the highest activity with soluble type II collagen. MMP13 can also degrade collagen type IV, type XIV and type X. It may also function by activating or degrading key regulatory proteins, such as TGFB1 and CCN2. MMP13 plays a role in wound healing, tissue remodeling, cartilage degradation, bone development, bone mineralization and ossification. It is required for normal embryonic bone development and ossification. It plays a role in the healing of bone fractures via endochondral ossification. MMP13 plays a role in wound healing, probably by a mechanism that involves proteolytic activation of TGFB1 and degradation of CCN2. It plays a role in keratinocyte migration during wound healing. MMP13 may play a role in cell migration and in tumor cell invasion.

MMP13 is also known as CLG3, MANDP1, MDST, MMP-13.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing