MMP24
matrix metallopeptidase 24
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. Unlike most MMPs, which are secreted, this protease is a member of the membrane-type MMP (MT-MMP) subfamily, contains a transmembrane domain and is expressed at the cell surface. Substrates of this protease include the proteins cadherin 2 and matrix metallopeptidase 2 (also known as 72 kDa type IV collagenase). The gene has previously been referred to as MMP25 but has been renamed matrix metallopeptidase 24 (MMP24). [provided by RefSeq, Oct 2019]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2515600790 | 20:33,814,549 | G/A | — | uncertain significance |
| rs1020190708 | 20:33,814,560 | G/A | — | uncertain significance |
| rs2515600939 | 20:33,814,579 | C/A | — | uncertain significance |
| rs2515600954 | 20:33,814,582 | C/A | — | uncertain significance |
| rs967207850 | 20:33,814,584 | C/T | — | likely benign |
| rs1300540815 | 20:33,814,594 | C/T | — | uncertain significance |
| rs1297212749 | 20:33,814,606 | A/T | — | uncertain significance |
| rs2515601129 | 20:33,814,633 | T/C | — | uncertain significance |
| rs1189001038 | 20:33,814,645 | T/G | — | uncertain significance |
| rs2060415492 | 20:33,814,689 | G/C | — | uncertain significance |
| rs2515601530 | 20:33,814,759 | A/C | — | uncertain significance |
| rs2515601551 | 20:33,814,764 | G/A | — | uncertain significance |
| rs1325793538 | 20:33,814,765 | C/T | — | uncertain significance |
| rs2515601587 | 20:33,814,780 | C/T | — | uncertain significance |
| rs1465235364 | 20:33,814,782 | G/A | — | uncertain significance |
| rs6142338 | 20:33,828,825 | G/A | intron variant | — |
| rs6120880 | 20:33,829,406 | C/T | — | — |
| rs767827478 | 20:33,834,665 | A/G | — | uncertain significance |
| rs373597415 | 20:33,834,685 | C/T | — | uncertain significance |
| rs761068567 | 20:33,834,695 | C/G | — | uncertain significance |
| rs371591987 | 20:33,839,725 | G/A | — | uncertain significance |
| rs190477122 | 20:33,842,508 | C/T | — | benign |
| rs759331413 | 20:33,842,542 | A/G | — | uncertain significance |
| rs1555322 | 20:33,849,179 | G/A | intron variant | — |
| rs762730417 | 20:33,851,644 | C/A | — | uncertain significance |
| rs1158327209 | 20:33,851,662 | C/T | — | uncertain significance |
| rs2515648585 | 20:33,851,750 | T/C | — | uncertain significance |
| rs188446136 | 20:33,853,224 | G/C | downstream gene variant | — |
| rs61729978 | 20:33,855,062 | G/A | — | uncertain significance |
| rs776175133 | 20:33,855,104 | C/T | — | uncertain significance |
| rs769137040 | 20:33,855,116 | G/A | — | uncertain significance |
| rs777650805 | 20:33,857,651 | G/C | — | uncertain significance |
| rs111895945 | 20:33,857,655 | C/T | — | likely benign |
| rs1300586442 | 20:33,859,377 | A/G | — | uncertain significance |
| rs372495279 | 20:33,859,456 | G/A | — | uncertain significance |
| rs745653266 | 20:33,862,192 | A/T | — | uncertain significance |
| rs769590911 | 20:33,862,195 | T/A | — | uncertain significance |
| rs373027505 | 20:33,862,201 | G/A | — | uncertain significance |
| rs777159332 | 20:33,862,215 | C/T | — | uncertain significance |
| rs374634355 | 20:33,862,216 | G/A | — | uncertain significance |
| rs370527619 | 20:33,862,232 | C/A | — | uncertain significance |
| rs150234484 | 20:33,862,253 | C/G | — | uncertain significance |
| rs781019666 | 20:33,862,257 | G/A | — | uncertain significance |
| rs777054255 | 20:33,862,284 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.