disease:Defects in FAM83H are the cause of amelogenesis imperfecta type 3 (AI3) [MIM:130900]. AI3 is an autosomal dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3 is characterized by enamel of normal thickness, but soft and with cheesy consistency. Enamel is lost from tooth soon after eruption.,function:May play a major role in the structural organization and calcification of developing enamel.,similarity:Belongs to the FAM83 family.,tissue specificity:Expressed in the tooth follicle.,
Cytoplasm, cytoskeleton . Colocalizes with keratin filaments. .
Expressed in the tooth follicle.
下载说明书
