Solute carrier family 26 member A2 (SLC26A2), also known as Diastrophic Dysplasia Protein (DTD or DTDST) is a SO4(2-)/OH-/Cl- exchanger regulated by extracellular Cl- []. SLC26A2 is activated by IGF-1 (Insulin-like Growth Factor 1) to regulate chondrocyte proliferation and differentiation, proteoglycan synthesis and size [].Mutations in the SLC26A2 gene cause Diastrophic dysplasia (DTD), a autosomal recessive disease characterised by osteochondrodysplasia []. Mutations in the SLC26A2 gene also cause Achondrogenesis 1B (ACG1B) [], a lethal form of chondrodysplasia, and multiple epiphyseal dysplasia 4 (EDM4), a generalised skeletal dysplasia associated with significant morbidity [].
