Novel NaPi-2c mutations that cause mistargeting of NaPi-2c protein and uncoupling of Na-Pi cotransport cause HHRH.
Moshe
M
Levi
D005089:Exocytosis; D053098:Familial Hypophosphatemic Rickets / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D053565:Hypercalciuria / Q000235:genetics* / Q000378:metabolism; D009154:Mutation / Q000235:genetics*; D010710:Phosphates / Q000378:metabolism; D012964:Sodium / Q000378:metabolism; D050608:Sodium-Phosphate Cotransporter Proteins / Q000378:metabolism*; D050615:Sodium-Phosphate Cotransporter Proteins, Type IIc / Q000235:genetics* / Q000378:metabolism*
D010710:Phosphates; C493562:SLC34A3 protein, human; D050608:Sodium-Phosphate Cotransporter Proteins; D050615:Sodium-Phosphate Cotransporter Proteins, Type IIc; D012964:Sodium