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GENATLAS PHENOTYPE

last update : 23-01-2013

Symbol	NPHLOP2
Location	17q25.1
Name	nephrolithiasis/osteoporosis, hypophosphatemic 2
Corresponding gene	SLC9A3R1
Main clinical features	hypophosphatemia and decreased renal phosphate resorption nephrolithiasis and bone demineralization (Karim 2008) increased urinary cAMP excretion and increased serum 1,25-dihydroxyvitamin D (calcitriol)
Genetic determination	autosomal dominant
Function/system disorder	kidney and urinary tract
Type	disease

Remark(s)

mutations decrease renal phosphate reabsorption by increasing PTH-induced cAMP production in the renal proximal tubule (PMID: 22506049)) E68A mutant did not interact with SLC34A1, which robustly interacted with SLC9A3R1 and was unable to increase cell surface expression of SLC34A1 (PMID: 22506049))