Draft:Amelogen
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ACP4(Acid Phosphatase 4) is a protein that in humans is encoded by ACP4 gene.[1]
[Function][edit]
ACP4 is involved in biomineralization during tooth enamel development.[2]
[Clinical Significance][edit]
Mutations in ACP4 result in amelogenesis imperfecta. It has been shown that mice with a knocked-out ACP4 gene will present disorganized and hypoplastic enamel.[3]
References[edit]
- ^ "GeneCards".
- ^ Liang, Tian; Wang, Shih-Kai; Smith, Charles; Zhang, Hong; Hu, Yuanyuan; Seymen, Figen; Koruyucu, Mine; Kasimoglu, Yelda; Kim, Jung-Wook; Zhang, Chuhua; Saunders, Thomas L.; Simmer, James P.; Hu, Jan C.-C. (2022-10-01). "Enamel defects in Acp4R110C/R110C mice and human ACP4 mutations". Scientific Reports. 12 (1): 16477. doi:10.1038/s41598-022-20684-9. ISSN 2045-2322. PMC 9526733. PMID 36183038.
- ^ Kim, Y. J.; Lee, Y.; Kasimoglu, Y.; Seymen, F.; Simmer, J. P.; Hu, J. C.-C.; Cho, E.-S.; Kim, J.-W. (January 2022). "Recessive Mutations in ACP4 Cause Amelogenesis Imperfecta". Journal of Dental Research. 101 (1): 37–45. doi:10.1177/00220345211015119. ISSN 1544-0591. PMC 8721729. PMID 34036831.