Although the function of the protein produced from the FAM83H gene is unknown, it is also believed to be involved in the formation of enamel. Most of these proteins are involved in the formation of enamel, which is the hard, calcium-rich material that forms the protective outer layer of each tooth. The AMELX, ENAM, and MMP20 genes provide instructions for making proteins that are essential for normal tooth development.
Mutations in the AMELX, ENAM, MMP20, and FAM83H genes can cause amelogenesis imperfecta.
