NCIt synonyms : NPTIIa; Solute Carrier Family 17, Member 2, Formerly Gene; Renal Sodium/Phosphate Transport Protein 2 Gene; Solute Carrier Family 17 (Sodium Phosphate), Member 2 Gene; Na -Phosphate Cotransporter Type II Gene; Renal Sodium-Dependent Phosphate Transporter Gene; Solute Carrier Family 34 Member 1 wt Allele; SLC17A2; FRTS2; HCINF2; Solute Carrier Family 34 (Type II Sodium/Phosphate Cotransporter), Member 1 Gene; NAPI-3; Solute Carrier Family 34 (Sodium Phosphate), Member 1 Gene; NPT2; Sodium/Phosphate Transport 2, Kidney Gene; NPHLOP1; SLC11;
NCIt definition : Human SLC34A1 wild-type allele is located in the vicinity of 5q35.3 and is approximately
20 kb in length. This allele, which encodes sodium-dependent phosphate transport protein
2A, plays a role in phosphate ion homeostasis. Mutations of the gene are associated
with Fanconi renotubular syndrome 2, infantile hypercalcemia 2 and hypophosphatemic
nephrolithiasis/osteoporosis 1.;
OMIM relation
