功能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.
疾病相关Defects in AMELX are the cause of amelogenesis imperfecta hypoplastic type 1 (AIH1) [MIM:301200]. AIH1 is a 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.
序列相似性Belongs to the amelogenin family.
发展阶段Transiently but abundantly expressed by ameloblasts during tooth development. Amelogenin is the predominant protein in developing dental enamel.
细胞定位Secreted > extracellular space > extracellular matrix.