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

ENAM gene

The ENAM gene provides instructions for making enamelin, a protein essential for the development of strong, protective tooth enamel.

Normal Function

The ENAM gene provides instructions for making a protein called enamelin, which is essential for normal tooth development. Enamelin is involved in the formation of enamel, the hard, white material that forms the protective outer layer of each tooth. Enamel is composed mainly of mineral crystals organized to provide strength and durability. Enamelin plays a key role in the formation and growth of these crystals in developing enamel.

Health Conditions Related to Genetic Changes

Amelogenesis imperfecta

Variants in the ENAM gene cause a disorder called amelogenesis imperfecta, in which tooth enamel does not form properly. Individuals with this condition have teeth that are unusually small, discolored, pitted, or grooved.

When caused by ENAM variants, the condition is inherited in an autosomal dominant or autosomal recessive pattern:

  • Autosomal dominant inheritance: Only one copy of the ENAM gene is altered. Some variants reduce the amount of enamelin produced, while others produce an abnormally short version of the protein. These "dominant-negative variants" interfere with the function of normal proteins, leading to enamel defects.
  • Autosomal recessive inheritance: Both copies of the ENAM gene are altered. This results in the production of an abnormal version of enamelin that prevents proper enamel development, leading to severe defects, weak enamel, and fragile, discolored teeth.

Other Names for This Gene

  • ADAI
  • AIH2
  • ENAM_HUMAN

Frequently Asked Questions

Because the enamel is thin or absent, the teeth are prone to wear and decay. Preventive measures include fluoride varnish applications, custom‑made fluoride‑releasing trays, and a strict oral‑hygiene regimen. Restorative options range from composite bonding for minor defects to full‑coverage crowns (porcelain or zirconia) for severe cases. In growing children, interim restorations such as stainless‑steel crowns may be used until permanent teeth erupt.
Routine prenatal screening does not include ENAM. If there is a known family history, targeted prenatal testing (via chorionic villus sampling or amniocentesis) can identify the mutation before birth, but this is rarely performed because the dental phenotype appears after tooth eruption. Early postnatal dental evaluation (by 6‑12 months) allows prompt preventive care, which can reduce future decay and improve aesthetics.
Enamel defects that are generalized, thin, or have pits and grooves can be a sign of amelogenesis imperfecta due to ENEN mutations. Diagnosis starts with a dental exam and radiographs, followed by genetic testing (sequencing of the ENAM gene) to confirm the cause. A referral to a clinical geneticist is recommended for interpretation and counseling.
ENAM‑related amelogenesis imperfecta can be inherited in either an autosomal dominant or recessive pattern. In the dominant form, a single altered copy gives a 50 % chance of transmission to each child. In the recessive form, both parents must carry a pathogenic variant; each child then has a 25 % chance of being affected, a 50 % chance of being a carrier, and a 25 % chance of being unaffected. Genetic testing of both parents clarifies the inheritance mode.
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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