Amelogenin X-linked (AMELX)

Amelogenin X-linked (AMELX) is a gene encoding the major form of the protein amelogenin, an extracellular matrix protein essential for the formation of tooth enamel[1][2][3][4][5][6]. Amelogenin comprises about 90% of the protein in developing enamel and is responsible for the regulation, organization, and mineralization of enamel crystallites during tooth development, ensuring proper enamel structure and strength[1][2][3][5]. Mutations in AMELX cause X-linked forms of amelogenesis imperfecta, a group of inherited conditions characterized by abnormally formed or hypomineralized enamel, which can result in fragile, discolored, or grooved teeth[2][4][5]. Although AMELX primarily functions in enamel, lower levels are also found in other tissues, but their biological significance there is not fully understood[5]. AMELX is not considered a direct drug target, and there are no known drugs acting on this protein. However, AMELX status is a useful genetic biomarker for certain dental disorders and for sex determination in forensic analysis.

Other names

Amelogenin, X isoformAMGAMGXamelogenesis imperfecta 1AI1EAIH1ALGNAMGLamelogenin (amelogenesis imperfecta 1, X-linked)amelogenin (X chromosome, amelogenesis imperfecta 1)AMELX_HUMAN