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AMELX

Developmental stage

Transiently but abundantly expressed by ameloblasts during tooth development. Amelogenin is the predominant protein in developing dental enamel.

Function

Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel.

Involvement in disease

Amelogenesis imperfecta 1E

AI1E

An X-linked defect of dental enamel formation. Teeth have only a thin layer of enamel with normal hardness. The thinness of the enamel makes the teeth appear small.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Phosphorylated by FAM20C in vitro.

Sequence Similarities

Belongs to the amelogenin family.

Cellular localization

Alternative names

AMG, AMGX, AMELX

swissprot:Q99217 entrezGene:265 omim:300391