MMP11
matrix metallopeptidase 11
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. However, the enzyme encoded by this gene is activated intracellularly by furin within the constitutive secretory pathway. Also in contrast to other MMP's, this enzyme cleaves alpha 1-proteinase inhibitor but weakly degrades structural proteins of the extracellular matrix. [provided by RefSeq, Jul 2008]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs131451 | 22:24,113,544 | C/T | regulatory region variant | — |
| rs1345948587 | 22:24,115,062 | C/A | — | uncertain significance |
| rs1369010539 | 22:24,115,070 | G/A | — | uncertain significance |
| rs1927281021 | 22:24,115,085 | G/C | — | uncertain significance |
| rs1791143398 | 22:24,115,094 | C/T | — | uncertain significance |
| rs738791 | 22:24,117,525 | C/T | intron variant | — |
| rs2267029 | 22:24,117,916 | A/T | — | — |
| rs781527444 | 22:24,121,377 | G/T | — | uncertain significance |
| rs738792 | 22:24,121,378 | C/T | missense variant | — |
| rs1601371769 | 22:24,121,416 | T/A | — | uncertain significance |
| rs759725165 | 22:24,121,423 | C/A | — | likely benign |
| rs563971507 | 22:24,121,459 | C/T | — | uncertain significance |
| rs566228484 | 22:24,121,473 | C/T | — | uncertain significance |
| rs376901794 | 22:24,121,515 | G/A | — | uncertain significance |
| rs2517638943 | 22:24,121,525 | A/G | — | uncertain significance |
| rs781225903 | 22:24,121,537 | C/T | — | uncertain significance |
| rs761007185 | 22:24,121,560 | G/A | — | uncertain significance |
| rs149825656 | 22:24,121,588 | C/G | — | uncertain significance |
| rs776022208 | 22:24,122,586 | C/T | — | uncertain significance |
| rs2517640727 | 22:24,122,795 | T/G | — | uncertain significance |
| rs937168934 | 22:24,122,887 | A/G | — | uncertain significance |
| rs374560133 | 22:24,122,891 | G/T | — | uncertain significance |
| rs1441864574 | 22:24,123,087 | G/A | — | uncertain significance |
| rs1325386834 | 22:24,123,157 | T/C | — | uncertain significance |
| rs143615965 | 22:24,123,185 | C/T | — | benign |
| rs201162696 | 22:24,123,186 | G/T | — | uncertain significance |
| rs1444992941 | 22:24,123,250 | A/G | — | uncertain significance |
| rs751924100 | 22:24,123,260 | A/G | — | uncertain significance |
| rs1367281177 | 22:24,123,268 | A/G | — | uncertain significance |
| rs1188606428 | 22:24,123,509 | G/A | — | uncertain significance |
| rs983030088 | 22:24,124,442 | A/G | — | uncertain significance |
| rs750098875 | 22:24,124,460 | G/A | — | uncertain significance |
| rs28382569 | 22:24,124,471 | C/A | — | benign |
| rs1011274449 | 22:24,124,503 | C/T | — | uncertain significance |
| rs751591400 | 22:24,124,511 | G/T | — | uncertain significance |
| rs374753818 | 22:24,124,584 | G/A | — | uncertain significance |
| rs765076865 | 22:24,124,587 | G/C | — | uncertain significance |
| rs368171608 | 22:24,124,601 | G/A | — | uncertain significance |
| rs150900545 | 22:24,124,646 | G/A | — | uncertain significance |
| rs62642531 | 22:24,125,615 | C/T | — | uncertain significance |
| rs776950374 | 22:24,125,616 | G/A | — | uncertain significance |
| rs1020130023 | 22:24,125,618 | G/A | — | uncertain significance |
| rs199515716 | 22:24,125,621 | C/T | — | uncertain significance |
| rs139719162 | 22:24,125,676 | G/A | — | uncertain significance |
| rs28382575 | 22:24,125,689 | T/C | synonymous variant | — |
| rs1196330618 | 22:24,125,708 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.