Aliases for AMELX Gene
External Ids for AMELX Gene
Previous HGNC Symbols for AMELX Gene
Previous GeneCards Identifiers for AMELX Gene
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]
GeneCards Summary for AMELX Gene
AMELX (Amelogenin, X-Linked) is a Protein Coding gene. Diseases associated with AMELX include amelogenesis imperfecta, type 1e and amelogenesis imperfecta hypomaturation type. GO annotations related to this gene include identical protein binding and structural constituent of tooth enamel. An important paralog of this gene is AMELY.
UniProtKB/Swiss-Prot for AMELX Gene
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.