AMBN
Function
Involved in the mineralization and structural organization of enamel.
Involvement in disease
Amelogenesis imperfecta 1F
AI1F
A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1F is characterized by hypoplastic enamel of the primary and secondary dentition.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ameloblastin family.
Tissue Specificity
Ameloblast-specific. Located at the Tomes processes of secretory ameloblasts and in the sheath space between rod-interrod enamel.
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
Alternative names
Ameloblastin, AMBN