Multiple epiphyseal dysplasia (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to moderate), joint deformities, abnormal gait, scoliosis, and brachydactyly. Recessive mutations in the SLC26A2 ge
30]. Both the N- and C-termini of the AE2 variant polypeptides are known to be cytoplasmic and can interact with proteins that regulate either the activity or its subcellular localization in the cells. The cytoplasmic C-terminal tail in turn has been...