enamelin
Última actualización 3 Dec 2025
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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.
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.
Conditions referring to this gene or chromosome
Otros nombres
ADAI
AIH2
ENAM_HUMAN
Lecturas adicionales y referencias
- enamelin; MedlinePlus, National Library of Medicine.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
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