SLC12A3抗体;SLC12A3 Antibody—艾普蒂

The solute carrier family 12 member 3 (SLC12A3) gene encodes the thiazide-sensitive sodium-chloride cotransporter (NCC), a protein predominantly expressed in the distal convoluted tubules of the kidney. This transporter plays a critical role in electrolyte homeostasis by mediating sodium and chloride reabsorption, a process regulated by aldosterone and intracellular chloride levels. Antibodies targeting SLC12A3/NCC are primarily utilized in research and clinical diagnostics to study its expression, localization, and functional alterations in renal physiology and disease. Mutations in SLC12A3 cause Gitelman syndrome, an autosomal recessive disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. NCC-specific antibodies enable the detection of protein expression deficits in patient samples, aiding in molecular confirmation of this syndrome. Additionally, these antibodies are employed in experimental models to investigate hypertension, diuretic mechanisms, and NCC regulation under various pathological conditions, such as chronic kidney disease or electrolyte imbalances. Recent studies also explore autoantibodies against NCC in autoimmune tubulopathies, though this area remains less characterized. Commercially available antibodies (polyclonal/monoclonal) are validated for techniques like immunohistochemistry, Western blotting, and immunofluorescence, with careful consideration required for specificity due to protein homology within the SLC12 family.