GENE REFERENCE / HGNC:7167

MMP20

matrix metallopeptidase 20

protein-coding gene11q22.2Gene information

What does this gene do?

The MMP20 gene provides instructions for making a protein called enamelysin, which is essential for normal tooth development. Enamelysin is involved in the formation of enamel, which is the hard, white material that forms the protective outer layer of each tooth. Enamel is composed mainly of mineral crystals. These microscopic crystals are arranged in organized bundles that give enamel its strength and durability.

Certain proteins are needed to shape and organize the crystals as they form, but these proteins must be removed for enamel to harden normally. Enamelysin cuts (cleaves) other proteins involved in enamel formation, such as amelogenin and ameloblastin, into smaller pieces. Cleavage of these proteins makes them easier to remove when they are no longer needed.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-12-03. Source review: 2015-05.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 240
Submissions for variants in or overlapping this gene: 327
Submissions explicitly reporting this gene: 294
Alleles reported pathogenic / likely pathogenic: 14
VariationIDs with uncertain significance: 128
VariationIDs with conflicting classifications: 8

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about MMP20?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 14 alleles in MMP20 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in MMP20.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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