Entrez gene ID | | 4321 |
Official gene symbol | | MMP12 |
Full name | | matrix metallopeptidase 12 (macrophage elastase) |
Aliases | | ,HME,MGC138506,MME, |
Gene summary | | 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 MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. It is thought that the protein encoded by this gene is cleaved at both ends to yield the active enzyme, but this processing has not been fully described. The enzyme degrades soluble and insoluble elastin. It may play a role in aneurysm formation and studies in mice suggest a role in the development of emphysema. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq] |
Location | | Chromosome: 11 Locus: 11q22.3 |
Gene position | | 102745764 - 102733464 Map Viewer |
Gene orientation | | minus |
Gene size | | 12301 bp |
Gene sequence |
| |
OMIM ID | | 601046 |
|