MMP20 Gene - Matrix Metallopeptidase 20
Enamel Matrix Metalloproteinase (Enamelysin) - Key Role in Dental Enamel Formation
Gene Information Card
| Symbol | MMP20 |
|---|---|
| Full Name | Matrix Metallopeptidase 20 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q22.2 |
| NCBI Gene ID | 9313 ncbi.nlm.nih.gov/gene/9313 |
| Ensembl ID | ENSG00000137673 |
| UniProt ID | O60882 |
| OMIM ID | 604629 |
| HGNC ID | 7167 |
| Aliases | MMP-20, enamelysin |
Description
MMP20 (Matrix Metallopeptidase 20), also known as enamelysin, is a member of the matrix metalloproteinase (MMP) family. It is primarily expressed in dental enamel and plays a critical role in the degradation of enamel matrix proteins during tooth development. Mutations in MMP20 are associated with autosomal recessive amelogenesis imperfecta, a disorder characterized by defective enamel formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amelogenesis Imperfecta (hypomaturation type, AI1H) | Loss-of-function mutations impair enamel matrix protein degradation, leading to defective enamel mineralization and structure. | ClinVar, OMIM |
| Amelogenesis Imperfecta (pigmented hypomaturation type) | Similar mechanism; reduced MMP20 activity results in retained enamel proteins and abnormal enamel. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Dental pulp | 0.0 | Not detected |
| Salivary gland | 0.0 | Not detected |
| Tooth (enamel organ) | High (specific) | Tissue-specific high expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HPAF-II (pancreas) | 0.0 | Not detected |
| MCF7 (breast) | 0.0 | Not detected |
| HEK 293 (embryonic kidney) | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.954C>A (p.Tyr318*) | Nonsense | Rare | Premature stop, loss of function |
| c.346G>A (p.Gly116Arg) | Missense | Rare | Reduced enzymatic activity |
| c.1042G>A (p.Gly348Arg) | Missense | Rare | Impaired protein function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish MMP20 proteolytic activity, leading to enamel defects.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Matrix metalloproteinases (MMPs) - Homo sapiens (human) - REACT_14797
• Degradation of extracellular matrix - REACT_118779
Protein Summary
MMP20 (enamelysin) is a secreted zinc-dependent endopeptidase that degrades enamel matrix proteins such as amelogenin during the maturation stage of enamel development. It is essential for proper enamel crystal growth and mineralization. The protein contains a signal peptide, a prodomain, and a catalytic domain with a zinc-binding motif. Mutations in MMP20 cause autosomal recessive hypomaturation amelogenesis imperfecta.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MMP20 Knockout HEK293 Cell Line | EDJ-KQ6545 | Human | 9313 | Details Get a Quote |
| MMP20 Knockout HeLa Cell Line | EDJ-KQ55126 | Human | 9313 | Details Get a Quote |
| MMP20 Knockout A-549 Cell Line | EDJ-KQ63606 | Human | 9313 | Details Get a Quote |
| MMP20 Knockout HCT 116 Cell Line | EDJ-KQ72070 | Human | 9313 | Details Get a Quote |
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