Entrez gene ID | | 265 |
Official gene symbol | | AMELX |
Full name | | amelogenin, X-linked |
Aliases | | ,AIH1,ALGN,AMG,AMGL,AMGX, |
Gene summary | | 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] |
Location | | Chromosome: X Locus: Xp22.31-p22.1 |
Gene position | | 11311533 - 11318881 Map Viewer |
Gene orientation | | plus |
Gene size | | 7349 bp |
Gene sequence |
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OMIM ID | | 300391 |
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