Defective SLC34A3 does not cotransport Pi, 2Na+

Stable Identifier
Reaction [transition]
Homo sapiens
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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).
Literature References
PubMed ID Title Journal Year
16358214 SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis

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

Am J Hum Genet 2006
16358215 Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3

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

Am. J. Hum. Genet. 2006
24246249 A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient

He, X, Chi, Y, Zhou, X, Sun, Y, Meng, X, Sun, AY, Xia, W, Wang, O, Zhao, Z, Xing, X, Li, M, Jiang, Y

Bone 2014
Catalyst Activity

sodium:phosphate symporter activity of SLC34A3 mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of SLC34A3 mutants [plasma membrane]

Name Identifier Synonyms
X-linked hypophosphatemia DOID:0050445 Rickets, Hypophosphatemic, hypophosphatemic rickets X-linked dominant, X-Linked Hypophosphatemia, Vitamin D-Resistant Rickets, X-Linked, Rickets, Vitamin D-Resistant, Hypophosphatemia, Vitamin D-Resistant Rickets
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