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AMTN

Function

Is a promoter of calcium phosphate mineralization, playing a critical role in the formation of the compact, mineralized, aprismatic enamel surface layer during the maturation stage of amelogenesis.

Involvement in disease

Amelogenesis imperfecta 3B

AI3B

An autosomal dominant form of amelogenesis imperfecta, a defect of enamel formation. AI3B is characterized by hypomineralized enamel that has reduced tickness and exhibits structural defects.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Phosphorylated by FAM20C in vitro.

O-glycosylated.

Sequence Similarities

Belongs to the amelotin family.

Cellular localization

Alternative names

UNQ689/PRO1329, AMTN, Amelotin

swissprot:Q6UX39 omim:610912 entrezGene:401138