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).
Lorenz-Depiereux, B, Benet-Pages, A, Eckstein, G, Tenenbaum-Rakover, Y, Wagenstaller, J, Tiosano, D, Gershoni-Baruch, R, Albers, N, Lichtner, P, Schnabel, D, Hochberg, Z, Strom, TM
Bergwitz, C, Roslin, NM, Tieder, M, Loredo-Osti, JC, Bastepe, M, Abu-Zahra, H, Frappier, D, Burkett, K, Carpenter, TO, Anderson, D, Garabedian, M, Sermet, I, Fujiwara, TM, Morgan, K, Tenenhouse, HS, Juppner, H
Chi, Y, Zhao, Z, He, X, Sun, Y, Jiang, Y, Li, M, Wang, O, Xing, X, Sun, AY, Zhou, X, Meng, X, Xia, W
sodium:phosphate symporter activity of SLC34A3 mutants [plasma membrane]
Loss of function of SLC34A3 mutants [plasma membrane]
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