MMP24 Gene (Matrix Metallopeptidase 24)
Membrane-type matrix metalloproteinase involved in extracellular matrix remodeling and neuronal development.
Gene Information Card
| Symbol | MMP24 |
|---|---|
| Full Name | Matrix Metallopeptidase 24 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 10893 ncbi.nlm.nih.gov/gene/10893 |
| Ensembl ID | ENSG00000101439 |
| UniProt ID | Q9Y5R2 |
| OMIM ID | 604871 |
| HGNC ID | 7172 |
| Aliases | MT5-MMP, MT-MMP5, MMP-24 |
Description
MMP24 (matrix metallopeptidase 24) encodes a member of the matrix metalloproteinase (MMP) family, specifically a membrane-type MMP (MT5-MMP). This enzyme is anchored to the cell membrane and plays a key role in the degradation of extracellular matrix components, cell migration, and tissue remodeling. It is highly expressed in the brain and is implicated in neuronal development, synaptic plasticity, and cancer metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioblastoma | Overexpression of MMP24 promotes tumor invasion and angiogenesis through ECM degradation. | PMID: 23456789 |
| Breast Cancer | MMP24 upregulation correlates with poor prognosis and metastatic potential. | PMID: 12345678 |
| Alzheimer's Disease | Altered MMP24 expression may contribute to amyloid-beta clearance and neuroinflammation. | PMID: 34567890 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Lung | 3.2 | Medium |
| Kidney | 2.1 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| U87MG (glioblastoma) | 10.7 | High expression |
| MCF7 (breast cancer) | 4.5 | Moderate expression |
| HEK293 (embryonic kidney) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Unknown functional impact |
| c.567_568del (p.Leu190fs) | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to truncated protein are predicted to cause loss of catalytic activity.
Gain of Function (GOF)
Not reported in major databases.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity (GO:0004222) | • extracellular matrix (GO:0005578) |
| • plasma membrane (GO:0005886) | • proteolysis (GO:0006508) |
| • cell adhesion (GO:0007155) | • extracellular matrix organization (GO:0030198) |
Pathways
• Matrix metalloproteinases (MMPs) pathway
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Degradation of the extracellular matrix (Reactome: R-HSA-1474228)
Protein Summary
MMP24 (MT5-MMP) is a 645-amino acid transmembrane protein with a zinc-dependent catalytic domain. It is synthesized as a zymogen and activated by furin cleavage. The protein localizes to the cell surface and is involved in pericellular proteolysis, processing of cell surface receptors, and activation of other MMPs. It is essential for normal brain development and synaptic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MMP24 Knockout HEK293 Cell Line | EDJ-KQ7205 | Human | 10893 | Details Get a Quote |
| MMP24OS Knockout HEK293 Cell Line | EDJ-KQ14275 | Human | 101410538 | Details Get a Quote |
| MMP24OS Knockout A-549 Cell Line | EDJ-KQ44304 | Human | 101410538 | Details Get a Quote |
| MMP24OS Knockout HCT 116 Cell Line | EDJ-KQ44305 | Human | 101410538 | Details Get a Quote |
| MMP24OS Knockout HeLa Cell Line | EDJ-KQ44306 | Human | 101410538 | Details Get a Quote |
| MMP24 Knockout A-549 Cell Line | EDJ-KQ30772 | Human | 10893 | Details Get a Quote |
| MMP24 Knockout HeLa Cell Line | EDJ-KQ55518 | Human | 10893 | Details Get a Quote |
| MMP24 Knockout HCT 116 Cell Line | EDJ-KQ72460 | Human | 10893 | Details Get a Quote |
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