Reaction: Defective SLC34A3 does not cotransport Pi, 2Na+
- in pathway: Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
SLC34A3 is almost exclusively expressed at the apical membranes of kidney proximal tubules and encodes a Na+/Pi cotransporter. It cotransports 2 Na+ ions with every phosphate (Pi) (electroneutral transport). Defects in SLC34A3 are the cause of hereditary hypophosphatemic rickets with hypercalciuria (HHRH; MIM:241530), an autosomal recessive form of hypophosphatemia characterised by reduced renal phosphate reabsorption and rickets. Mutations causing HHRH include G191R, P303Rfs*40, C77Afs*75, R468W and G196R (Chi et al. 2014, Lorenz-Depiereux et al. 2006, Bergwitz et al. 2006).
Reaction - small molecule participants:
Pi [extracellular region]
Na+ [extracellular region]
Reactome.org reaction link: R-HSA-5651971
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Reaction input - small molecules:
hydrogenphosphate
sodium(1+)
Reaction output - small molecules:
Reactome.org link: R-HSA-5651971