Gene Symbol | AMELX |
Entrez Gene ID | 265 |
Full Name | amelogenin, X-linked |
Synonyms | AI1E,AIH1,ALGN,AMG,AMGL,AMGX |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Amelogenesis imperfecta, type 1E, 301200 (3) |