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 tooth enamel, which is the hard, white material that forms the protective outer layer of each tooth. Enamel is composed mainly of mineral crystals. These microscopic crystals are organized in a way to give enamel strength and durability. Amelogenin acts as a scaffold to separate and support the crystals as they grow. Amelogenin is removed from the developing crystals when it is no longer needed, leaving mature enamel that contains very little protein.
The AMELX gene is located on the X chromosome. Males have a single copy of the X chromosome, and thus a single copy of the AMELX gene, in each cell. Females have two copies of the X chromosome, and thus two copies of the AMELX gene, in each cell. However, in females, the X chromosome undergoes a process called X-inactivation. Early in female embryonic development, one of the two X chromosomes is randomly and permanently inactivated in cells other than egg cells. X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Because of this, females also only have one active copy of the AMELX gene in each body cell.
Other Names
AIH1; ALGN; AMELX_HUMAN; AMG; AMGL; AMGX
Related Genetics Topics
Identifiers
- NCBI Gene: 265
- OMIM: 300391
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
