Gene: MMP12

Alternate names for this Gene: HME|ME|MME|MMP-12

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 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q22.2

Description of this Gene: matrix metallopeptidase 12

Type of Gene: protein-coding

rs12808148 in MMP12 gene and Alzheimer's Disease PMID 22832961 2012 Genome-wide association study of Alzheimer's disease.

rs17368582 in MMP12 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs17368582 in MMP12 gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs17368582 in MMP12 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.