MMP12
matrix metallopeptidase 12
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]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12808148 | 11:102,733,163 | T/C | downstream gene variant | — |
| rs56184183 | 11:102,733,812 | A/C | coding sequence variant | — |
| rs2496333715 | 11:102,734,925 | A/T | — | uncertain significance |
| rs1859343671 | 11:102,734,955 | G/C | — | uncertain significance |
| rs1555008202 | 11:102,734,956 | G/C | — | uncertain significance |
| rs2496337379 | 11:102,736,619 | G/C | — | uncertain significance |
| rs652438 | 11:102,736,642 | T/G | coding sequence variant | — |
| rs2496338648 | 11:102,737,067 | T/C | — | uncertain significance |
| rs201781425 | 11:102,738,015 | A/G | — | likely benign |
| rs17368582 | 11:102,738,075 | T/C | coding sequence variant | — |
| rs61730846 | 11:102,738,739 | A/G | — | likely benign |
| rs662028 | 11:102,740,628 | A/G | intron variant | — |
| rs1859503274 | 11:102,742,584 | C/T | — | uncertain significance |
| rs961069992 | 11:102,742,596 | G/C | — | uncertain significance |
| rs2496349729 | 11:102,742,608 | C/T | — | uncertain significance |
| rs180918521 | 11:102,742,629 | C/A | — | uncertain significance |
| rs544068451 | 11:102,742,630 | G/A | — | uncertain significance |
| rs782018826 | 11:102,742,635 | G/T | — | uncertain significance |
| rs782297288 | 11:102,742,636 | C/A | — | uncertain significance |
| rs201046473 | 11:102,742,644 | A/G | — | uncertain significance |
| rs201865119 | 11:102,743,673 | C/T | — | uncertain significance |
| rs781874658 | 11:102,743,789 | T/G | — | uncertain significance |
| rs782391556 | 11:102,745,585 | T/C | — | uncertain significance |
| rs1859569832 | 11:102,745,615 | G/A | — | uncertain significance |
| rs1555009881 | 11:102,745,619 | G/A | — | uncertain significance |
| rs2276109 | 11:102,745,791 | T/A | — | — |
| rs572527200 | 11:102,745,794 | T/C | — | — |
| rs1277718 | 11:102,747,551 | G/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.