Reference Gene
Gene name | Alias | Species | Exons | Type | Paralogs | EC number | OMIM |
---|---|---|---|---|---|---|---|
MMP12 matrix metallopeptidase 12 | ME , HME , MME , MMP-12 | Homo sapiens | 10 | protein-coding | MMP21 , MMP20 , MMP10 , MMP3 , MMP8 , MMP1 , MMP27 , MMP25 , MMP17 , MMP19 , MMP28 , MMP14 , MMP23B , MMP24 , MMP11 , MMP9 , MMP2 , MMP15 , MMP16 , MMP26 , MMP7 , MMP13 | 3.4.24.65 | 601046 |
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 degrades soluble and insoluble elastin. This gene may play a role in aneurysm formation and mutations in this gene are associated with lung function and chronic obstructive pulmonary disease (COPD). This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]
GeneOntology
Gene Loss events - MMP12 (1 results)
GL_ID | Species | Order | Gene Loss Mechanism | Loss Type | Lineage Specific | Citation |
---|---|---|---|---|---|---|
GL_SAQUEG | Physeter catodon | Artiodactyla | Other | Full | No | 10.1093/gbe/evx187 |