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Article

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

Biochemical and biophysical research communications - 21 Oct 2017

Wang Lingyun, Holmes Ross P, Peng Ji-Bin

Abstract excerpt

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...

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Calcium
Genetic Variation
Kidney Calculi
Models, Molecular

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

TRPV Cation Channels

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Identifiers

PMID: 28847730
DOI: 10.1016/j.bbrc.2017.08.102
PMCID: PMC5639706

Genes

TRPV5
TRPV6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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