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
15483460 Sodium-phosphate cotransporters, nephrolithiasis and bone demineralization

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

Curr. Opin. Nephrol. Hypertens. 2004
23333524 The kidney sodium-phosphate co-transporter alters bone quality in an age and gender specific manner

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

Bone 2013
12324554 Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter

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

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

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

Mol. Aspects Med. 2013
24459526 Kidney and phosphate metabolism

Choi, NW

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