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 (6 results)

GL_ID Species Order Gene Loss Mechanism Loss Type Lineage Specific Citation
GL_9UUW9W Physeter catodon Artiodactyla LOF (frameshift, premature stop, ss) Full Cetacea 10.1038/s41467-018-03667-1
GL_DUGUTQ Balaenoptera acutorostrata Artiodactyla LOF (frameshift, premature stop, ss) Full Cetacea 10.1038/s41467-018-03667-1
GL_NQKE6H Tursiops truncatus Artiodactyla LOF (frameshift, premature stop, ss) Full Cetacea 10.1038/s41467-018-03667-1
GL_S1EZUJ Trichechus manatus Sirenia LOF (frameshift, premature stop, ss) Full Sirenia 10.1038/s41467-018-03667-1
GL_SAQUEG Physeter catodon Artiodactyla Other Full No 10.1093/gbe/evx187
GL_V8Y4EL Orcinus orca Artiodactyla LOF (frameshift, premature stop, ss) Full Cetacea 10.1038/s41467-018-03667-1