AMELY

AMELY is a gene that provides instructions for making a protein called amelogenin. This protein plays a crucial role in the formation of enamel, which is the hard, white material that forms the protective outer layer of each tooth. The AAMELY gene is located on the Y chromosome, which is one of the two sex chromosomes. In males (who have one X and one Y chromosome), the AAMELY gene is only active in developing teeth. In females (who have two X chromosomes), this gene is presumably inactive. The AAMELY gene is a member of the amelogenin family of genes.

Function

The AMELY gene provides instructions for making a protein called amelogenin. This protein is essential for the normal development of tooth enamel. Amelogenin makes up more than 90 percent of the enamel's organic (protein) content. The protein helps control the thickness of the enamel and the rate at which it hardens.

Genetic Changes

More than 10 mutations in the AMELY gene have been identified in people with X-linked amelogenesis imperfecta, a condition that affects the structure and appearance of the teeth. These mutations prevent the production of amelogenin, which disrupts the formation of enamel and leads to the characteristic features of this condition.

Health Conditions Related to Genetic Changes

Mutations in the AMELY gene can lead to X-linked amelogenesis imperfecta, a condition that affects the structure and appearance of the teeth. This condition is characterized by abnormally thin and discolored enamel that easily chips away, leading to tooth decay and loss.

Other Names for This Gene

• amelogenin, Y-linked
• AMG
• AMGL
• AIH2

Additional Information

Other health conditions related to mutations in the AMELY gene include tooth agenesis, selective, X-linked, and amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked.

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