MMP28: Matrix Metallopeptidase 28 (Epilysin)
A comprehensive gene card for MMP28, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | MMP28 |
|---|---|
| Full Name | Matrix Metallopeptidase 28 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 79148 ncbi.nlm.nih.gov/gene/79148 |
| Ensembl ID | ENSG00000108576 |
| UniProt ID | Q9H8L6 |
| OMIM ID | 608417 |
| HGNC ID | 14326 |
| Aliases | epilysin, MMP-28, MMP-28 (epilysin) |
Description
MMP28 (matrix metallopeptidase 28), also known as epilysin, is a member of the matrix metalloproteinase (MMP) family. It is involved in the breakdown of extracellular matrix components and plays roles in tissue remodeling, wound healing, and inflammatory responses. MMP28 is expressed in various tissues, including skin, lung, and testis, and has been implicated in cancer, fibrosis, and autoimmune diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression may promote tumor invasion and metastasis via ECM degradation. | NCBI Gene, COSMIC |
| Idiopathic pulmonary fibrosis | Upregulation in lung tissue contributes to fibrotic remodeling. | NCBI Gene, PubMed |
| Osteoarthritis | Altered expression in cartilage may affect matrix turnover. | NCBI Gene, PubMed |
| Wound healing | MMP28 is induced during cutaneous wound repair. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Testis | 15.1 | High |
| Kidney | 6.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 10.4 | Moderate expression |
| HaCaT (keratinocyte) | 14.2 | High expression |
| HEK293 (embryonic kidney) | 5.6 | Low expression |
| MCF7 (breast cancer) | 7.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Potential loss of start codon; likely loss of function |
| c.1234C>T (p.Arg412Trp) | missense | <0.01% | Unknown functional effect |
| c.567_568insA | frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations are predicted to result in loss of function.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity (GO:0004222) | • extracellular matrix (GO:0005578) |
| • proteolysis (GO:0006508) | • collagen catabolic process (GO:0030574) |
| • extracellular space (GO:0005615) |
Pathways
• Matrix metalloproteinases (MMPs) pathway
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Degradation of the extracellular matrix (Reactome: R-HSA-1474228)
Protein Summary
MMP28 (epilysin) is a 520-amino acid zinc-dependent endopeptidase with a signal peptide, prodomain, catalytic domain, and hemopexin-like domain. It is secreted as a zymogen and activated by proteolytic cleavage. The protein degrades extracellular matrix components such as collagen and fibronectin, and is involved in tissue homeostasis, inflammation, and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MMP28 Knockout HEK293 Cell Line | EDJ-KQ14277 | Human | 79148 | Details Get a Quote |
| MMP28 Knockout A-549 Cell Line | EDJ-KQ44309 | Human | 79148 | Details Get a Quote |
| MMP28 Knockout HeLa Cell Line | EDJ-KQ44310 | Human | 79148 | Details Get a Quote |
| MMP28 Knockout HCT 116 Cell Line | EDJ-KQ74087 | Human | 79148 | Details Get a Quote |
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