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Official Full Name: solute carrier family 34 member 3
Also known as: HHRH; NPT2C; NPTIIc
This gene encodes a member of the SLC34A transporter family and is mainly expressed in the kidney. It is involved in the transport of phosphate into cells by sodium cotransport through the renal brush border membrane and helps maintain the concentration of inorganic phosphate in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Different spliced transcript variants were found in the 5'UTR of this gene.