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ProteomicsThe intracellular localization and the ionic permeation of TRPV6 triggers chronic pancreatitis, skeletal dysplasia and is connected to mucolipidosis type II (data part II)
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 intr...
ORGANISM(S): Homo sapiens (Human) 
2026-02-02 | PXD065789 | Pride
Transient receptor potential I-cell disease Trpv6 Mucolipidosis type ii Skeletal dysplasia Calcium channel Gnptab Chronic pancreatitis Mannose-6-phosphate 
ProteomicsThe intracellular localization and the ionic permeation of TRPV6 triggers chronic pancreatitis, skeletal dysplasia and is connected to mucolipidosis type II
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 intr...
ORGANISM(S): Homo sapiens (Human) 
2026-02-02 | PXD065752 | Pride
Transient receptor potential I-cell disease Trpv6 Mucolipidosis type ii Skeletal dysplasia Calcium channel Gnptab Chronic pancreatitis Mannose-6-phosphate 
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