WD repeat-containing protein 72
Function
Plays a major role in formation of tooth enamel (PubMed:19853237, PubMed:25008349). Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in localization of the calcium transporter SLC24A4 to the ameloblast cell membrane.
Involvement in disease
Amelogenesis imperfecta, hypomaturation type, 2A3
AI2A3
A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Cytoplasmic vesicle
Alternative names
WD repeat-containing protein 72, WDR72