Entrez 265 | Ensembl ENSG00000125363 | |
External IDs OMIM: 300391 HomoloGene: 36056 GeneCards: AMELX | ||
Amelogenin, X isoform is a protein that in humans is encoded by the AMELX (amelogenin, X isoform) gene.
Contents
The protein Amelogenin, X isoform is an isoform of amelogenin that comes from the X chromosome. The protein Amelogenin is a type of extracellular matrix protein, and is involved in the progcess of amelogenesis, the formation of enamel on teeth. 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, which in humans results in amelogenin genes on both the X and Y chromosomes.
Function
AMELX is involved in biomineralization during tooth enamel development. The AMELX gene encodes for the structural modeling protein, amelogenin, which works with other amelogenesis-related proteins to direct the mineralisation of enamel. This process involves the organization of enamel rods, the basic unit of tooth enamel, as well as the inclusion and growth of hydroxyapatite crystals.
Clinical significance
Mutations in the AMELX gene can result in amelogenesis imperfecta, which refers to the collection of enamel defects resulting from either genetic or environmental causes. It has been shown that mice with a knocked-out AMELX gene will present disorganized and hypoplastic enamel.