SLC34A3 is almost exclusively expressed at the apical membranes of kidney proximal tubules and encodes a Na+/Pi cotransporter. It cotransports 2 Na+ ions with every phosphate (Pi) (electroneutral transport). Defects in SLC34A3 are the cause of hereditary hypophosphatemic rickets with hypercalciuria (HHRH; MIM:241530), an autosomal recessive form of hypophosphatemia characterised by reduced renal phosphate reabsorption and rickets. Mutations causing HHRH include G191R, P303Rfs*40, C77Afs*75, R468W and G196R (Chi et al. 2014, Lorenz-Depiereux et al. 2006, Bergwitz et al. 2006).
Morgan, K, Abu-Zahra, H, Bastepe, M, Sermet, I, Fujiwara, TM, Roslin, NM, Garabedian, M, Anderson, D, Carpenter, TO, Frappier, D, Tenenhouse, HS, Loredo-Osti, JC, Burkett, K, Tieder, M, Juppner, H, Bergwitz, C
Gershoni-Baruch, R, Wagenstaller, J, Schnabel, D, Tiosano, D, Benet-Pages, A, Hochberg, Z, Eckstein, G, Albers, N, Tenenbaum-Rakover, Y, Lichtner, P, Lorenz-Depiereux, B, Strom, TM
He, X, Chi, Y, Zhou, X, Sun, Y, Meng, X, Sun, AY, Xia, W, Wang, O, Zhao, Z, Xing, X, Li, M, Jiang, Y
sodium:phosphate symporter activity of SLC34A3 mutants [plasma membrane]
Loss of function of SLC34A3 mutants [plasma membrane]
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