MMP26
matrix metallopeptidase 26
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. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme may degrade collagen type IV, fibronectin, fibrinogen, and beta-casein, and activate matrix metalloproteinase-9 by cleavage. The protein differs from most MMP family members in that it lacks a conserved C-terminal protein domain. The encoded protein may promote cell invasion in multiple human cancers. [provided by RefSeq, May 2016]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs377281056 | 11:4,790,178 | C/G | — | — |
| rs12788102 | 11:4,790,575 | A/G | synonymous variant | — |
| rs11033797 | 11:4,790,857 | A/G | synonymous variant | — |
| rs150981042 | 11:4,819,295 | A/G | upstream gene variant | — |
| rs576600909 | 11:4,853,354 | C/A | — | — |
| rs77554180 | 11:4,872,287 | C/G | — | — |
| rs2196122 | 11:4,885,548 | G/A | — | — |
| rs890565237 | 11:4,920,230 | C/A | — | — |
| rs112902560 | 11:4,922,532 | G/T | intron variant | — |
| rs193119485 | 11:4,944,584 | C/T | intron variant | — |
| rs183487920 | 11:4,948,813 | T/C | — | — |
| rs113342804 | 11:4,953,240 | A/G | intron variant | — |
| rs114310641 | 11:4,980,781 | C/G | upstream gene variant | — |
| rs188513096 | 11:4,993,424 | T/A | downstream gene variant | — |
| rs545389801 | 11:4,997,545 | T/G | — | — |
| rs1589825460 | 11:5,009,466 | A/T | — | uncertain significance |
| rs1846934695 | 11:5,009,479 | C/T | — | uncertain significance |
| rs781512909 | 11:5,009,490 | G/A | — | likely benign |
| rs778362234 | 11:5,009,493 | G/A | — | likely benign |
| rs1261616940 | 11:5,010,879 | G/T | — | uncertain significance |
| rs2499953 | 11:5,010,905 | A/G | missense variant | — |
| rs35365239 | 11:5,010,915 | C/T | — | likely benign |
| rs773751132 | 11:5,010,965 | C/T | — | uncertain significance |
| rs758131539 | 11:5,010,984 | T/G | — | uncertain significance |
| rs766069648 | 11:5,010,993 | A/G | — | uncertain significance |
| rs2494048553 | 11:5,011,034 | G/T | — | uncertain significance |
| rs1479165607 | 11:5,011,828 | G/C | — | uncertain significance |
| rs752588907 | 11:5,011,860 | C/G | — | uncertain significance |
| rs1846984392 | 11:5,011,865 | G/T | — | uncertain significance |
| rs2494050071 | 11:5,011,893 | C/T | — | uncertain significance |
| rs376216232 | 11:5,011,902 | G/A | — | uncertain significance |
| rs771890155 | 11:5,011,957 | G/A | — | likely benign |
| rs368201873 | 11:5,013,200 | A/T | — | uncertain significance |
| rs2494053354 | 11:5,013,347 | A/T | — | uncertain significance |
| rs1200097029 | 11:5,013,353 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.