Based on this, it can be suggested that dysregulation of calcium homoeostasis by human SLC10A7 mutation represents the initial defect that subsequently leads to impaired glycosaminoglycan synthesis, disturbed glycoprotein transport, and bone/enamel hypo-mineralization, and finally ends in the clinical phenotype of skeletal dysplasia, amelogenesis imperfecta, and decreased bone mineral density16–18. Here, SLC10A7 is linked to amelogenesis imperfecta.