Article
The intracellular localization and the ionic permeation of TRPV6 triggers chronic pancreatitis, skeletal dysplasia and is connected to mucolipidosis type II.
Cell communication and signaling : CCS - 23 Dec 2025
Fecher-Trost Claudia, Gehl Anna-Lena, Trunk Alessa, Hellmich Johanna, Wesely Christine, Löhr Heidi, Buchholz Stefanie, Cole Marnie, Beck Andreas, Meyer Markus R, Wissenbach Ulrich
Abstract excerpt
Heterozygous TRPV6 mutations, which reduce significantly the Ca2+-permeability of the channel, lead to chronic pancreatitis and, if both TRPV6-alleles are affected, to skeletal dysplasia with neonatal transient hyperparathyroidism (TNHP) of newborns. We show that TRPV6 channels are localized in intracellular vesicles in pancreatic acinar cells, in the syncytiotrophoblast layer of the placenta and, after...
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