Primary gene structure and expression studies of rodent paracellin-1

S Weber, KP Schlingmann, M Peters… - Journal of the …, 2001 - journals.lww.com
The novel member of the claudin multigene family, paracellin-1/claudin-16, encoded by the
gene PCLN1, is a renal tight junction protein that is involved in the paracellular transport of
magnesium and calcium in the thick ascending limb of Henle's loop. Mutations in human
PCLN1 are associated with familial hypomagnesemia with hypercalciuria and
nephrocalcinosis, an autosomal recessive disease that is characterized by severe renal
magnesium and calcium loss. The complete coding sequences of mouse and rat Pcln1 and …