disease:Defects in SLC34A3 are the cause of hereditary hypophosphatemic rickets with hypercalciuria (HHRH) [MIM:241530]. HHRH is an autosomal recessive form of hypophosphatemia characterized by reduced renal phosphate reabsorption and rickets. Increased serum levels of 1,25-dihydroxyvitamin D lead to increase in urinary calcium excretion.,function:May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Probably mediates 20-30% of the apical influx.,miscellaneous:A 2:1 stoichiometry to Na(+)/Pi is observed at pH 7.4.,similarity:Belongs to the SLC34A transporter family.,
Membrane; Multi-pass membrane protein.
Kidney,
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