{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSLC26A2 is a transmembrane anion exchanger that plays a pivotal role in importing extracellular sulfate – as well as exchanging sulfate with chloride, oxalate, hydroxide, and other anions – to support cellular sulfation reactions. Detailed functional analyses using heterologous expression systems (such as Xenopus oocytes) and structural modeling have revealed that SLC26A2 operates via multiple exchange modes that depend on the local ion gradients and pH, and that its activity is modulated by post‐translational modifications (including N‐glycosylation) and regulatory signals such as protein kinase C. These studies have provided essential mechanistic insight into substrate affinity and transport kinetics, establishing SLC26A2 as a critical determinant of sulfate homeostasis in cells."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn cartilage and other skeletal tissues, SLC26A2‐mediated sulfate transport is indispensable for the sulfation of glycosaminoglycans and proteoglycans, which in turn is critical for proper extracellular matrix assembly and normal chondrocyte function. Mutations in SLC26A2 disrupt this process, leading to a spectrum of autosomal recessive chondrodysplasias – including diastrophic dysplasia, multiple epiphyseal dysplasia (MED), achondrogenesis type IB, and atelosteogenesis type II – that are characterized by abnormal cartilage development, joint deformities, and growth impairment. Comprehensive genotype–phenotype studies in diverse populations have not only elucidated the underlying transport deficiency but have also highlighted how specific mutation combinations correlate with clinical severity, spinal deformities, and even subtle manifestations in joint or bone mineral density."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "27"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its established role in skeletal tissues, SLC26A2 also contributes to physiological processes in other organs. For example, in the gastrointestinal tract SLC26A2 activity may facilitate oxalate transport, with impaired sulfate uptake linked to altered carbohydrate sulfation patterns in colon cancer cells. Moreover, by being one of the predominant sulfate transporters in the placenta, it helps secure fetal sulfate supply essential for growth, while in the adrenal cortex its downregulation has been implicated in the dysregulation of aldosterone secretion. Recent bioinformatics‐guided studies further suggest that SLC26A2 is expressed in the inner ear, where its dysfunction may underlie certain forms of hearing loss."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "28", "end_ref": "32"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "John F Heneghan, Arash Akhavein, Maria J Salas, et al. 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