The SLC26A1 and 2 genes encode sulfate transporter proteins that facilitate sulfate uptake into cells, critical in cartilage for sulfation of proteoglycans and extracellular matrix organization. Defects in SLC26A2 result in impaired SO4(2-) transport leading to insufficient sulfation of cartilage proteoglycans. Defective SLC26A2 is implicated in the pathogenesis of a spectrum of autosomal recessive human chondrodysplasias. Severity of symptoms range from mild (diastrophic dysplasia; MIM:222600), intermediate (atelosteogenesis type II; MIM256050) to severe (achondrogenesis type 1B; MIM:600972) (Superti-Furga et al. 1996, Dwyer et al. 2010, Dawson & Markovich 2005).