Enamelin (ENAM)

Enamelin is a large (approximately 168 kDa) non-amelogenin enamel matrix protein encoded by the ENAM gene and is essential for the proper formation of dental enamel during tooth development. It is the least abundant among enamel matrix proteins (1-5%), but it is critical for controlling the growth, elongation, and architecture of enamel crystals by interacting with hydroxyapatite and other matrix proteins in developing teeth. Enamelin undergoes extensive post-translational modification, including phosphorylation by FAM20C, and is processed by proteases such as MMP20 shortly after secretion. Mutations in the ENAM gene cause autosomal-dominant and autosomal-recessive forms of amelogenesis imperfecta, characterized by generalized thin enamel or absence of the enamel layer. It is not considered a typical drug target, enzyme, transporter, or receptor, but rather a highly specialized extracellular matrix protein essential for hard tissue mineralization in teeth.

Other names

ENAMADAIAI1CAIH2amelogenesis imperfecta 2hypocalcification (autosomal dominant)enamelin