Solute carrier family 26 member 2 (SLC26A2)

Solute carrier family 26 member 2 (SLC26A2) is a widely expressed cell membrane protein that functions primarily as an electroneutral sulfate/chloride antiporter, facilitating the uptake and exchange of inorganic sulfate and other anions across the plasma membrane[1][2][4]. It is crucial for the sulfation of proteoglycans, essential molecules for cartilage structure during development, and thus vital for normal cartilage and bone formation[4]. Pathogenic mutations in SLC26A2 severely disrupt proteoglycan sulfation, resulting in inherited skeletal dysplasias with phenotypes ranging from lethal achondrogenesis type 1B and atelosteogenesis type 2 to less severe diastrophic dysplasia and multiple epiphyseal dysplasia[1][2][3][4]. The gene is also implicated in non-congenital disease contexts such as Crohn’s disease (where expression is upregulated) and certain cancers (where repression promotes proliferation and TRAIL-resistance)[2]. SLC26A2 is considered an important therapeutic target, particularly in modeling and understanding the cellular defects in chondrodysplasia and exploring new therapies[1][2].

Other names

Sulfate transporterDTDDTDSTDiastrophic dysplasia proteindiastrophic dysplasia sulfate transporterD5S1708EDM4MST153MSTP157sulfate anion transporter 1