Table 1.

Genes involved in hypercalciuria, gene products and their renal expression and phenotype. CD, collecting duct; DCT, distal convoluted tubule; IC, intercalated cell PT, proximal tubule; MCD, medullary collecting duct; TAL, thick ascending limb

Gene	Gene Product/Function	Renal Tubular Expression	Renal Phenotype
VDR	Vitamin D Receptor	DCT, CD	Decreased calcium reabsorption leading to Hypercalciuria and Nephrocalcinosis
CLCN5	Cl/H antiporter	PT, TAL, αIC	Inactivating mutation causes Hypercalciuria, Hyperphosphaturia, Low molecular weight proteinuria, Nephrocalcinopsis, Stones
CASR	Calcium Sensing Receptor	PT (apical), MCD (principal cell, apical), TAL (basal), DCT (basal)	Gain of Function mutation produces Hypercalciuria, Nephrocalcinosis, Stones
CLDN16	Tight Junction protein	TAL, DCT	Hypercalciuria, Magnesium wasting, Nephrocalcinosis, Stones
NPT2a/c	Sodium phosphate co-transporter	PT	Hypercalciuria, Hypophosphatemia, Phosphate wasting, Nephrocalcinosis, Stones
TRPV5	Calcium selective transient receptor potential channel	DCT, Connecting Tubule	Hypercalciuria, Hyperphosphaturia
sAC	Soluble adenylate cyclase/bicarbonate exchanger	DCT, TAL, CD	Hypercalciuria, Stones
KLOTHO	Aging suppression protein/ Regulator of calcium homeostasis	DCT	Hypercalciuria