Defective SLC34A3 does not cotransport Pi, 2Na+

Stable Identifier
R-HSA-5651971
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
16358215 Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3

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

Am. J. Hum. Genet. 2006
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

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

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

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

Bone 2014
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
sodium:phosphate symporter activity of SLC34A3 mutants [plasma membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
X-linked hypophosphatemia 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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