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URL of this page: https://medlineplus.gov/genetics/gene/enam/

ENAM gene

enamelin

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, 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 organized in a way that gives enamel strength and durability. Enamelin likely plays a key role in the formation and growth of crystals in the developing enamel.

Health Conditions Related to Genetic Changes

Amelogenesis imperfecta

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

When amelogenesis imperfecta is caused by variants in the ENAM gene, it is inherited in either an autosomal dominant or autosomal recessive pattern.

Autosomal dominant inheritance means that only one copy of the ENAM gene in each cell is altered. Some of the ENAM gene variants that cause amelogenesis imperfecta reduce the amount of enamelin produced from one copy of the gene. Other variants cause cells to produce of an abnormally short version of enamelin. The shortened protein likely interferes with the function of the normal proteins that are produced from the working copy of the gene.  Because this version of enamelin interferes with normal cell activities, the variants are described as "dominant-negative variants". The altered proteins can lead to enamel problems and the other signs and symptoms seen in people with amelogenesis imperfecta.

Autosomal recessive inheritance means that both copies of the ENAM gene in each cell are altered. These variants cause cells to produce an abnormal version of enamelin that prevents enamel from developing properly. People who inherit two altered copies of the ENAM gene have severe defects in their enamel, leading to the weak enamel and the fragile and discolored teeth seen in people with amelogenesis imperfecta.

More About This Health Condition

Other Names for This Gene

  • ADAI
  • AIH2
  • ENAM_HUMAN

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Chan HC, Estrella NM, Milkovich RN, Kim JW, Simmer JP, Hu JC. Target gene analyses of 39 amelogenesis imperfecta kindreds. Eur J Oral Sci. 2011 Dec;119 Suppl 1(Suppl 1):311-23. doi: 10.1111/j.1600-0722.2011.00857.x. Citation on PubMed or Free article on PubMed Central
  • Kim JW, Seymen F, Lin BP, Kiziltan B, Gencay K, Simmer JP, Hu JC. ENAM mutations in autosomal-dominant amelogenesis imperfecta. J Dent Res. 2005 Mar;84(3):278-82. doi: 10.1177/154405910508400314. Citation on PubMed
  • Kim JW, Simmer JP, Lin BP, Seymen F, Bartlett JD, Hu JC. Mutational analysis of candidate genes in 24 amelogenesis imperfecta families. Eur J Oral Sci. 2006 May;114 Suppl 1:3-12; discussion 39-41, 379. doi: 10.1111/j.1600-0722.2006.00278.x. Citation on PubMed
  • Pavlic A, Petelin M, Battelino T. Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. Arch Oral Biol. 2007 Mar;52(3):209-17. doi: 10.1016/j.archoralbio.2006.10.010. Epub 2006 Nov 27. Citation on PubMed
  • Smith CEL, Poulter JA, Antanaviciute A, Kirkham J, Brookes SJ, Inglehearn CF, Mighell AJ. Amelogenesis Imperfecta; Genes, Proteins, and Pathways. Front Physiol. 2017 Jun 26;8:435. doi: 10.3389/fphys.2017.00435. eCollection 2017. Citation on PubMed
  • Wang YL, Lin HC, Liang T, Lin JC, Simmer JP, Hu JC, Wang SK. ENAM Mutations Can Cause Hypomaturation Amelogenesis Imperfecta. J Dent Res. 2024 Jun;103(6):662-671. doi: 10.1177/00220345241236695. Epub 2024 May 8. Citation on PubMed
  • Wright JT, Torain M, Long K, Seow K, Crawford P, Aldred MJ, Hart PS, Hart TC. Amelogenesis imperfecta: genotype-phenotype studies in 71 families. Cells Tissues Organs. 2011;194(2-4):279-83. doi: 10.1159/000324339. Epub 2011 May 19. Citation on PubMed or Free article on PubMed Central

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