title: Genes and related proteins involved in amelogenesis imperfecta.
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.
authors.affiliation: Diploma in Dental Science, Aristotle University of Thessaloniki, Greece.
authors.forename: G
authors.initials: G
authors.lastname: Stephanopoulos
authors.forename: M-E
authors.initials: ME
authors.lastname: Garefalaki
authors.forename: K
authors.initials: K
authors.lastname: Lyroudia
mesh_terms: D000567:Amelogenesis Imperfecta / Q000235:genetics*; D053523:Amelogenin; D003746:Dental Enamel Proteins / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007610:Kallikreins / Q000235:genetics; D053519:Matrix Metalloproteinase 20; D020782:Matrix Metalloproteinases / Q000235:genetics; D009154:Mutation / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
chemical_list: C507199:AMELX protein, human; D053523:Amelogenin; D003746:Dental Enamel Proteins; C088334:Distal-less homeobox proteins; D018398:Homeodomain Proteins; D014157:Transcription Factors; C038456:tuftelin; D007610:Kallikreins; C120801:kallikrein 4; C507111:MMP20 protein, human; D053519:Matrix Metalloproteinase 20; D020782:Matrix Metalloproteinases