| Gene Summary |
This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this 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. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016] |
| Function |
MMP13 (collagense 3) plays a role in the degradation of extracellular matrix proteins including fibrillar collagen, fibronectin, TNC, and ACAN. MMP13 cleaves tripal helical collagens, including type I, II, and III collagen - but has the highest activity with soluble type II collagen. It can degrade collagen type IV, XIV, and X. 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 ossificaiton. Mutations affecting the gene can lead to spondyloepimetaphyseal dysplasia Missouri type, metaphyseal anadysplasia 1, and metaphyseal dysplasia Sphar type. |