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Beschreibung

Claudin-16 (UniProt: Q9Y5I7, also known as Paracellin-1, PCLN-1) is encoded by the CDLN1 (also known as PCLN1) gene (Gene ID: 10686) in human. Claudin-16 is a multi-pass membrane protein that span the plasma membrane 4 times, with their N- and C-termini located in the cytosol. It is selectively expressed at tight junctions of renal epithelial cells of the thick ascending limb of loop of Henle s where it acts as either an intercellular pore or ion concentration sensor to regulate the paracellular resorption of divalent cations. Claudin-16 may form, alone or in partnership with other constituents, an intercellular pore permitting paracellular passage of magnesium and calcium ions down their electrochemical gradients. Alternatively, it could be a sensor of magnesium concentration that could alter paracellular permeability mediated by other factors. Over 20 different mutation sin CLDN1 gene have been reported that are linked to familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), a renal Mg2+ and Ca2+ wasting disorder that ultimately leads to progressive kidney failure. (Ref.: Muller D et al. (2006). J. Clin. Endocrinol. Metab. 91(8):3076-3079).