Publication:

Amelogenin x linked chromosome

The AMELX gene provides instructions for making a protein called amelogenin, which is essential for normal tooth development. Amelogenin is involved in the formation of enamel, which is the hard, white material that forms the protective outer layer of each tooth. Using molecular genetic techniques, we have shown that there is no evidence that the AMGX gene is deleted in this case of the Nance-Horan syndrome. In affected members of a Michigan kindred of Eastern European ancestry segregating X-linked amelogenesis imperfecta with a characteristic snow-capped enamel phenotype.