amelogenin X-linked
Última actualización 3 Dec 2025
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The AMELX gene provides instructions for making a protein called amelogenin, which is essential for normal tooth development. Amelogenin is involved in the formation of tooth 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 to give enamel strength and durability. Amelogenin acts as a scaffold to separate and support the crystals as they grow. Amelogenin is removed from the developing crystals when it is no longer needed, leaving mature enamel that contains very little protein.
Normal function
The AMELX gene provides instructions for making a protein called amelogenin, which is essential for normal tooth development. Amelogenin is involved in the formation of tooth 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 to give enamel strength and durability. Amelogenin acts as a scaffold to separate and support the crystals as they grow. Amelogenin is removed from the developing crystals when it is no longer needed, leaving mature enamel that contains very little protein.
The AMELX gene is located on the X chromosome. Males have a single copy of the X chromosome, and thus a single copy of the AMELX gene, in each cell. Females have two copies of the X chromosome, and thus two copies of the AMELX gene, in each cell. However, in females, the X chromosome undergoes a process called X-inactivation. Early in female embryonic development, one of the two X chromosomes is randomly and permanently inactivated in cells other than egg cells. X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Because of this, females also only have one active copy of the AMELX gene in each body cell.
Conditions referring to this gene or chromosome
Otros nombres
AIH1
ALGN
AMELX_HUMAN
AMG
AMGL
AMGX
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Lecturas adicionales y referencias
- amelogenin X-linked; MedlinePlus, National Library of Medicine.
- Hu JC, Chan HC, Simmer SG, Seymen F, Richardson AS, Hu Y, Milkovich RN, Estrella NM, Yildirim M, Bayram M, Chen CF, Simmer JP. Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6. PLoS One. 2012;7(12):e52052. doi: 10.1371/journal.pone.0052052. Epub 2012 Dec 14.
- Margolis HC, Beniash E, Fowler CE. Role of macromolecular assembly of enamel matrix proteins in enamel formation. J Dent Res. 2006 Sep;85(9):775-93. doi: 10.1177/154405910608500902.
- Sharmin N, Yuan J, Chow AK. Using computer-generated protein models to analyze mutations linked to Amelogenesis Imperfecta. PLoS One. 2025 Jun 26;20(6):e0326679. doi: 10.1371/journal.pone.0326679. eCollection 2025.
- 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 SK, Zhang H, Lin HC, Wang YL, Lin SC, Seymen F, Koruyucu M, Simmer JP, Hu JC. AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta. Int J Mol Sci. 2024 Jun 1;25(11):6132. doi: 10.3390/ijms25116132.
- Wright JT, Li Y, Suggs C, Kuehl MA, Kulkarni AB, Gibson CW. The role of amelogenin during enamel-crystallite growth and organization in vivo. Eur J Oral Sci. 2011 Dec;119 Suppl 1(Suppl 1):65-9. doi: 10.1111/j.1600-0722.2011.00883.x.
- 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.
- Wright JT. The molecular etiologies and associated phenotypes of amelogenesis imperfecta. Am J Med Genet A. 2006 Dec 1;140(23):2547-55. doi: 10.1002/ajmg.a.31358.
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