Amelogenin, X Isoform (AMELX) Human Recombinant Protein

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, Jul 2008]

AMELX: 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. Defects in AMELX are the cause of amelogenesis imperfecta type 1E (AI1E). 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. Belongs to the amelogenin family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: Xp22.31-p22.1

Cellular Component: proteinaceous extracellular matrix; cell surface

Molecular Function: identical protein binding; protein binding; growth factor activity; hydroxyapatite binding; structural constituent of tooth enamel

Biological Process: osteoblast differentiation; cell proliferation; ion homeostasis; biomineral formation; positive regulation of collagen biosynthetic process; chondrocyte differentiation; epithelial to mesenchymal transition; cell adhesion; signal transduction; odontogenesis of dentine-containing teeth

Disease: Amelogenesis Imperfecta, Type Ie