Defective SLC34A3 does not cotransport Pi, 2Na+

Stable Identifier
R-HSA-5651971
Type
Reaction [transition]
Species
Homo sapiens
Compartment
extracellular region, plasma membrane
ReviewStatus
5/5
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
 | PPTX  | SBGN
Defective SLC34A3 does not cotransport Pi, 2Na+
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout
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
Participants
Input
Participates
as an event of
Catalyst Activity

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

Physical Entity
SLC34A3 mutants [plasma membrane] (Homo sapiens)
Activity
sodium:phosphate symporter activity (GO:0005436)
Normal reaction
SLC34A3 cotransports Pi, 2Na+ (Homo sapiens)
Functional status

Loss of function of SLC34A3 mutants [plasma membrane]

Normal Entity
Disease Entity
Status
Disease
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
Authored
Jassal, B  (2014-11-26)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-11-26)
Cite Us!