The L530R variation associated with recurrent kidney stones impairs the structure and function of TRPV5.
Sign Up to like & getrecommendations! Published in 2017 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2017.08.102
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… read more here.
Keywords: variation; associated recurrent; trpv5; structure ... See more keywords