This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in;biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta.;Alternative splicing results in multiple transcript variants encoding different isoforms.
AMELX; AMG; AI1E; AIH1; ALGN; AMGL; AMGX; amelogenin, X isoform; amelogenesis imperfecta 1; amelogenin (amelogenesis imperfecta 1, X-linked); amelogenin (X chromosome, amelogenesis imperfecta 1)