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FAM20A gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

FAM20A gene

The FAM20A gene plays a critical role in the mineralization of bones and teeth, and variants in this gene are associated with enamel-renal syndrome.

Normal Function

The FAM20A gene provides instructions for making a protein that is found in cells throughout the body. The FAM20A protein plays a role in the process of mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth. Mineralization is critical for the formation of strong and rigid bones. It is also involved in building tooth enamel, which is the hard, white material that forms the protective outer layer of each tooth. Enamel strengthens teeth so they can withstand chewing and grinding. The FAM20A protein also plays a role in regulating the levels of calcium in the kidneys.

Health Conditions Related to Genetic Changes

Amelogenesis imperfecta

Variants (also called mutations) in the FAM20A gene have been found to cause a disorder called amelogenesis imperfecta. In people with this disorder, tooth enamel does not form properly and is very thin. As a result, people with amelogenesis imperfecta may have teeth that are unusually small, discolored, pitted, or grooved.

When this condition is caused by FAM20A gene variants, it is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell are altered. Some people with amelogenesis imperfecta caused by FAM20A gene variants also develop calcium deposits in the kidneys (nephrocalcinosis) later in life. Because the kidneys can be affected, this form of amelogenesis imperfecta is sometimes called enamel-renal syndrome. People with enamel-renal syndrome also tend to have overgrowth of the gums (gingival hyperplasia), missing teeth, and short tooth roots.

Most of the FAM20A gene variants that cause amelogenesis imperfecta cause cells to produce altered versions of the FAM20A protein that do not function properly. Without functional FAM20A proteins, the normal development of tooth enamel is disrupted. As a result, affected individuals have the thin enamel and the fragile and discolored teeth that are characteristic of amelogenesis imperfecta.

Other Names for This Gene

  • AI1G
  • AIGFS
  • FP2747

Frequently Asked Questions

Individuals with FAM20A variants often have amelogenesis imperfecta, meaning their tooth enamel is very thin, leading to unusually small, discolored, pitted, or grooved teeth that are prone to decay. They may also experience overgrowth of the gums (gingival hyperplasia). For kidney involvement, known as nephrocalcinosis, it's important to monitor for symptoms like flank pain, blood in the urine, or recurrent urinary tract infections, as calcium deposits can form in the kidneys later in life.
Nephrocalcinosis, or calcium deposits in the kidneys, may not always cause noticeable symptoms in its early stages. However, potential signs to watch for include recurrent kidney stones, flank or abdominal pain, blood in the urine (hematuria), frequent urination, or symptoms of a urinary tract infection. Regular monitoring of kidney function and imaging may be recommended by a doctor to detect and manage this complication.
Enamel-renal syndrome caused by FAM20A gene variants is inherited in an autosomal recessive pattern. This means a person must inherit two altered copies of the gene (one from each parent) to develop the condition. Parents who each carry one altered copy are typically unaffected but have a 25% chance with each pregnancy of having a child with the syndrome. Genetic counseling can help families understand their risk and options for family planning.
Treatment for the dental problems focuses on protecting the fragile enamel, restoring tooth structure, and managing sensitivity. This can include fluoride treatments, dental sealants, bonding, crowns, or veneers to improve tooth strength, appearance, and function. Regular dental check-ups and good oral hygiene are crucial to prevent decay and manage gingival hyperplasia.
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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