Paper
Genes and Related Proteins Involved in Amelogenesis Imperfecta
Published Dec 1, 2005 · DOI · G. Stephanopoulos, M. Garefalaki, K. Lyroudia
Journal of Dental Research
156
Citations
9
Influential Citations
Abstract
Dental enamel formation is a remarkable example of a biomineralization process. The exact mechanisms involved in this process remain partly obscure. Some of the genes encoding specific enamel proteins have been indicated as candidate genes for amelogenesis imperfecta. Mutational analyses within studied families have supported this hypothesis. Mutations in the amelogenin gene (AMELX) cause X-linked amelogenesis imperfecta, while mutations in the enamelin gene (ENAM) cause autosomal-inherited forms of amelogenesis imperfecta. Recent reports involve kallikrein-4 (KLK4), MMP-20, and DLX3 genes in the etiologies of some cases. This paper focuses mainly on the candidate genes involved in amelogenesis imperfecta and the proteins derived from them, and reviews current knowledge on their structure, localization within the tissue, and correlation with the various types of this disorder.
Mutations in amelogenin, enamelin, and related genes are associated with various types of amelogenesis imperfecta, and understanding their structure and function may help develop treatments.
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