Defective SLC34A1 does not cotransport Pi, 3Na+

Stable Identifier
R-HSA-5651685
Type
Reaction [transition]
Species
Homo sapiens
Compartment
plasma membrane, extracellular region
ReviewStatus
5/5
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Defective SLC34A1 does not cotransport Pi, 3Na+
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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
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Catalyst Activity

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

Physical Entity
SLC34A1 mutants [plasma membrane] (Homo sapiens)
Activity
sodium:phosphate symporter activity (GO:0005436)
Normal reaction
SLC34A1,2 cotransports Pi, 3Na+ from extracellular region to cytosol (Homo sapiens)
Functional status

Loss of function of SLC34A1 mutants [plasma membrane]

Normal Entity
Disease Entity
Status
Disease
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
Mondo
Authored
Jassal, B  (2014-11-24)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-11-24)
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