The L530R variation associated with recurrent kidney stones impairs the structure and function of TRPV5.

ABSTRACT: TRPV5 is a Ca²⁺-selective channel that plays a key role in the reabsorption of Ca²⁺ ions in the kidney. Recently, a rare L530R variation (rs757494578) of TRPV5 was found to be associated with recurrent kidney stones in a founder population. However, it was unclear to what extent this variation alters the structure and function of TRPV5. To evaluate the function and expression of the TRPV5 variant, Ca²⁺ uptake in Xenopus oocytes and western blot analysis were performed. The L530R variation abolished the Ca²⁺ uptake activity of TRPV5 in Xenopus oocytes. The variant protein was expressed with drastic reduction in complex glycosylation. To assess the structural effects of this L530R variation, TRPV5 was modeled based on the crystal structure of TRPV6

SUBMITTER: Wang L 

PROVIDER: S-EPMC5639706 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature