AMELX

Amelogenin, X isoform is a protein that in humans is encoded by the AMELX gene.

Amelogenin, X isoform is a form of amelogenin found on the X chromosome. Amelogenin X is a member of the amelogenin family of extracellular matrix proteins. When alternative splicing occurs it results in multiple transcript variants encoding different isoforms.

Function
AMELX is involved in biomineralization during tooth enamel development.

Clinical significance
Mutations in the AMELX gene can cause amelogenesis imperfecta, a disorder of tooth enamel development.