Gene:
amelogenin (amelogenesis imperfecta 1, X-linked)
Gene ID:
197062
Symbol:
AMELX
Species:
1000
Description:
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.