FAM83H
Function
May play a major role in the structural organization and calcification of developing enamel (PubMed:18252228). May play a role in keratin cytoskeleton disassembly by recruiting CSNK1A1 to keratin filaments. Thereby, it may regulate epithelial cell migration (PubMed:23902688).
Involvement in disease
Amelogenesis imperfecta 3A
AI3A
An autosomal dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3A is characterized by enamel of normal thickness but soft and with cheesy consistency. Enamel is lost from tooth soon after eruption.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the FAM83 family.
Tissue Specificity
Expressed in the tooth follicle.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Colocalizes with keratin filaments.
Alternative names
Protein FAM83H, FAM83H