AMELX

This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq]

Full Name

amelogenin (amelogenesis imperfecta 1, X-linked)

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.

Biological Process

Biomineral tissue development Source: BHF-UCL
Cell adhesion Source: BHF-UCL
Cellular protein metabolic process Source: Reactome
Chondrocyte differentiation Source: BHF-UCL
Enamel mineralization Source: BHF-UCL
Epithelial to mesenchymal transition Source: BHF-UCL
Odontogenesis of dentin-containing tooth Source: BHF-UCL
Osteoblast differentiation Source: BHF-UCL
Positive regulation of collagen biosynthetic process Source: BHF-UCL
Positive regulation of tooth mineralization Source: BHF-UCL
Post-translational protein modification Source: Reactome
Regulation of cell population proliferation Source: BHF-UCL
Response to calcium ion Source: Ensembl
Response to drug Source: Ensembl
Response to nutrient Source: Ensembl
Signal transduction Source: BHF-UCL
Tooth mineralization Source: BHF-UCL

Cellular Location

Extracellular matrix

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.

PTM

Phosphorylated by FAM20C in vitro.