Reaction: Defective SLC34A1 does not cotransport Pi, 3Na+
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).
Reaction - small molecule participants:
Pi [extracellular region]
Na+ [extracellular region]
Reactome.org reaction link: R-HSA-5651685
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Reaction input - small molecules:
hydrogenphosphate
sodium(1+)
Reaction output - small molecules:
Reactome.org link: R-HSA-5651685