Defective SLC34A1 does not cotransport Pi, 3Na+

Stable Identifier
R-HSA-5651685
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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 and implicated in the formation of renal calcium stones and/or bone demineralisation. Mutations causing NPHLOP1 are A48F and V147M (Prie et al. 2002).

Literature References
PubMed ID Title Journal Year
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
Participants
Participates
Catalyst Activity

sodium:phosphate symporter activity of SLC34A1 mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of SLC34A1 mutants [plasma membrane]

Status
Disease
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
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