AMELX

Amelogenin, X isoform is a protein that in humans is encoded by the AMELX (amelogenin, X isoform) is_associated_with::gene.

The protein Amelogenin, X isoform is an isoform of is_associated_with::amelogenin that comes from the is_associated_with::X chromosome. The protein Amelogenin is a type of extracellular matrix protein, and is involved in the progcess of is_associated_with::amelogenesis, the formation of enamel on teeth. Amelogenin X is a member of the amelogenin family of is_associated_with::extracellular matrix proteins. When alternative splicing occurs, it results in multiple transcript variants encoding different isoforms, which in humans results in amelogenin genes on both the X and Y chromosomes.

Function
AMELX is involved in biomineralization during is_associated_with::tooth enamel development. The AMELX gene encodes for the structural modeling protein, amelogenin, which works with other amelogenesis-related proteins to direct the mineralization of enamel. This process involves the organization of is_associated_with::enamel rods, the basic unit of tooth enamel, as well as the inclusion and growth of hydroxyapatite crystals.

Clinical significance
Mutations in the AMELX gene can result in is_associated_with::amelogenesis imperfecta, which refers to the collection of enamel defects resulting from either genetic or environmental causes. It has been shown that mice with a knocked-out AMELX gene will present disorganized and hypoplastic enamel.