A missense mutation in the sodium phosphate co-transporter Slc34a1 impairs phosphate homeostasis
T Iwaki, MJ Sandoval-Cooper… - Journal of the …, 2008 - journals.lww.com
The sodium phosphate co-transporters Npt2a and Npt2c play important roles in the
regulation of phosphate homeostasis. Slc34a1, the gene encoding Npt2a, resides
downstream of the gene encoding coagulation factor XII (f12) and was inadvertently
modified while generating f12−/− mice. In this report, the renal consequences of this
modification are described. The combined single allelic mutant Slc34a1m contains two point
mutations in exon 13: A499V is located in intracellular loop 5, and V528M is located in …
regulation of phosphate homeostasis. Slc34a1, the gene encoding Npt2a, resides
downstream of the gene encoding coagulation factor XII (f12) and was inadvertently
modified while generating f12−/− mice. In this report, the renal consequences of this
modification are described. The combined single allelic mutant Slc34a1m contains two point
mutations in exon 13: A499V is located in intracellular loop 5, and V528M is located in …