SLC34A3

This gene encodes 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.

Full Name

Solute Carrier Family 34 Member 3

Function

Involved in actively transporting phosphate into cells via Na+ cotransport in the renal brush border membrane (PubMed:11880379).
The cotransport has a Na+:Pi stoichiometry of 2:1 and is electroneutral (By similarity).

Biological Process

Biological Process cellular phosphate ion homeostasisManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process phosphate ion transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process sodium ion transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process sodium-dependent phosphate transportManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Apical cell membrane
ocalized at the brush border membrane in the kidney.

Involvement in disease

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH):
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.