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SLC34A3 / NaPi-2c is a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.
Gene Name: | solute carrier family 34 (type II sodium/phosphate contransporter), member 3 |
Family/Subfamily: | Transporter , Sodium:phosphate symporter |
Synonyms: | SLC34A3, HHRH, Na(+)/Pi cotransporter 2C, NAPI3C, NPT2C, NPTIIc, Type IIc Na+/Pi cotransporter, NAPI-3C, NaPi-2c |
Target Sequences: | AB055000 BAB83242.1 Q8N130 |
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