Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)

Stable Identifier
R-HSA-5619097
Type
Pathway
Species
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 (Bergwitz et al. 2006, Segawa et al. 2013, Forster et al. 2013).

Literature References
PubMed ID Title Journal Year
23506879 Phosphate transporters of the SLC20 and SLC34 families

Forster, IC, Hernando, N, Biber, J, Murer, H

Mol. Aspects Med. 2013
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
24076642 [Updates on rickets and osteomalacia: the role of NaPi-2c/SLC34A3 and hypophosphataemic rickets]

Segawa, H, Shiozaki, Y, Minoshima, S, Miyamoto, K

Clin Calcium 2013
Participants
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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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