Human TRPV6-pathies caused by gene mutations.

Abstract The TRP-family of ion channels consists of 27 members in humans. Most TRP channels are non- selective cation channels with the exception of TRPV5 and TRPV6 which exhibit a high permeability for Ca2+ ions. A functional channel is formed by 4 identical subunits [ 1 ]. A growing number of mutations are present in human TRPV6 genes which alter channel function and can lead to elevated blood levels of the parathyroid hormone accompanied by transient hyperparathyroidism. Recent publications suggest that TRPV6 mutations could also trigger non-alcoholic chronic pancreatitis. This review summarises the consequences of these mutations within the TRPV6 gene.