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MMP20 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MMP20 gene

The MMP20 gene provides instructions for making enamelysin, an enzyme essential for the proper formation and hardening of tooth enamel.

Normal Function

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, the hard, protective outer layer of teeth composed of mineral crystals.

During enamel formation, specific proteins are required to organize mineral crystals. Once these crystals are formed, these proteins must be removed for the enamel to harden. Enamelysin cuts (cleaves) proteins such as amelogenin and ameloblastin into smaller pieces, making them easier to remove when they are no longer needed.

Health Conditions Related to Genetic Changes

Amelogenesis imperfecta

Variants in the MMP20 gene are associated with amelogenesis imperfecta, a condition that affects the development of tooth enamel.

Other Names for This Gene

  • enamel metalloproteinase
  • matrix metallopeptidase 20 (enamelysin)
  • matrix metalloproteinase 20
  • MMP-20
  • MMP20_HUMAN

Frequently Asked Questions

MMP20-related amelogenesis imperfecta is typically inherited in an autosomal recessive pattern, meaning a child must inherit two copies of the mutated gene (one from each parent) to develop the condition. If both parents are carriers, there is a 25% chance with each pregnancy that their child will be affected. It can also be inherited in an autosomal dominant pattern in some cases, where only one copy of the mutated gene is needed. Genetic counseling can provide a more precise risk assessment for your family.
Parents might notice teeth that are unusually small, discolored (yellow, brown, or gray), pitted, grooved, or abnormally soft and prone to wear. The enamel may chip easily or be completely absent in some areas, leading to increased sensitivity and cavities.
Diagnosis typically involves a thorough dental examination, X-rays to assess tooth structure, and a detailed family history. Genetic testing, often using a blood or saliva sample, can confirm an MMP20 gene mutation and help determine the specific type of amelogenesis imperfecta.
Treatment focuses on protecting the teeth, improving their appearance, and preventing further damage. This can include fluoride treatments, dental sealants, bonding, crowns, veneers, or even extraction in severe cases. Regular dental check-ups and good oral hygiene are crucial.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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