Anja Pfau, Karen I López-Cayuqueo, Nora Scherer, Matthias Wuttke, Annekatrin Wernstedt, Daniela González Fassrainer, Desiree Ec Smith, Jiddeke M van de Kamp, Katharina Ziegeler, Kai-Uwe Eckardt, Friedrich C Luft, Peter S Aronson, Anna Köttgen, Thomas J Jentsch, Felix Knauf
Sulfate plays a pivotal role in numerous physiological processes in the human body, including bone and cartilage health. A role of the anion transporter SLC26A1 (Sat1) for sulfate reabsorption in the kidney is supported by the observation of hyposulfatemia and hypersulfaturia in Slc26a1-knockout mice. The impact of SLC26A1 on sulfate homeostasis in humans remains to be defined. By combining clinical genetics, functional expression assays, and population exome analysis, we identify SLC26A1 as a sulfate transporter in humans and experimentally validate several loss-of-function alleles...
February 1, 2023: Journal of Clinical Investigation