amelogenin (amelogenesis imperfecta 1, X-linked)

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NCBI Description of AMELX

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.

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


AMELX is highly significantly mutated in
AMELX is significantly mutated in
AMELX is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for AMELX