MMP28
matrix metallopeptidase 28
Summary
Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction and tissue remodeling, and disease processes, such as asthma and metastasis. This gene encodes a secreted enzyme that degrades casein. Its expression pattern suggests that it plays a role in tissue homeostasis and in wound repair. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs190059142 | 17:34,093,305 | G/T | downstream gene variant | — |
| rs575655624 | 17:34,093,972 | C/A | — | — |
| rs2509951334 | 17:34,094,908 | C/T | — | uncertain significance |
| rs774639772 | 17:34,095,384 | C/T | — | uncertain significance |
| rs150715227 | 17:34,103,762 | G/A | downstream gene variant | — |
| rs375923654 | 17:34,106,021 | G/A | — | uncertain significance |
| rs560975119 | 17:34,106,077 | G/A | — | uncertain significance |
| rs201925301 | 17:34,106,078 | C/T | — | uncertain significance |
| rs201680056 | 17:34,106,284 | T/G | — | uncertain significance |
| rs552144137 | 17:34,121,945 | C/T | — | — |
| rs763434043 | 17:34,122,279 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.