Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1)

Stable Identifier
Homo sapiens
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SLC34A1 and 2 encode Na+/Pi cotransporters, which cotransport divalent phosphate (PO4(2-), Pi) with 3 Na+ ions. SLC34A1 is an important Pi transporter mainly expressed in renal proximal tubules where it plays a major role in Pi homeostasis. Defects in SLC34A1 are the cause of hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1; MIM:612286), disease characterised by decreased renal phosphate absorption, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and implicated in the formation of renal calcium stones and/or bone demineralisation (Prie et al. 2002, Prie et al. 2004, Choi 2008, Boskey et al. 2013, Forster et al. 2013).

Literature References
PubMed ID Title Journal Year
23333524 The kidney sodium-phosphate co-transporter alters bone quality in an age and gender specific manner

Boskey, AL, Lukashova, L, Spevak, L, Ma, Y, Khan, SR

Bone 2013
15483460 Sodium-phosphate cotransporters, nephrolithiasis and bone demineralization

Prié, D, Beck, L, Friedlander, G, Silve, C

Curr. Opin. Nephrol. Hypertens. 2004
12324554 Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter

Prie, D, Huart, V, Bakouh, N, Planelles, G, Dellis, O, Gérard, B, Hulin, P, Benqué-Blanchet, F, Silve, C, Grandchamp, B, Friedlander, G

N Engl J Med 2002
23506879 Phosphate transporters of the SLC20 and SLC34 families

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

Mol. Aspects Med. 2013
24459526 Kidney and phosphate metabolism

Choi, NW

Electrolyte Blood Press 2008
Name Identifier Synonyms
nephrolithiasis DOID:585 Stone - kidney/ureter, calculus of kidney and ureter (disorder), NEPHROLITHIASIS, CALCIUM OXALATE, Stone - kidney/ureter, kidney stones, UROLITHIASIS, CALCIUM OXALATE
hypophosphatemia DOID:0050336
renal tubular transport disease DOID:447 inborn renal tubular transport disorder
Cross References
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