Single nucleotide polymorphisms in the human Na+-dicarboxylate cotransporter affect transport activity and protein expression.

ABSTRACT: The sodium-coupled transport of citric acid cycle intermediates in the intestine and kidney is mediated by the Na(+)-dicarboxylate cotransporter, NaDC1. In the kidney, NaDC1 plays an important role in regulating succinate and citrate concentrations in the urine, which may have physiological consequences including the development of kidney stones. In the present study, the impact of nonsynonymous single nucleotide polymorphisms (SNPs) on NaDC1 expression and function was characterized using the COS-7 cell heterologous expression system. The I550V variant had an increased sensitivity to lithium inhibition although there were no significant effects on protein abundance. The L44F variant had no significant effects on expression or function. The membrane protein abundance of the M45L, V117I, an

SUBMITTER: Pajor AM 

PROVIDER: S-EPMC2957249 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature