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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.
AI1E; AIH1; ALGN; Amel; amelogenesis imperfecta 1; amelogenin (amelogenesis imperfecta 1, X-linked); amelogenin (X chromosome, amelogenesis imperfecta 1); amelogenin X chromosome; amelogenin, X isoform; amelogenin, X-linked; Amelx; AMG; AMGL; AMGX; enamel matrix protein; leucine-rich amelogenin peptide; LRAP; M100888; Rgsc888
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