SLC34A3
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).
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the SLC34A transporter family.
Tissue Specificity
Expressed only in the kidney.
Cellular localization
- Apical cell membrane
- Multi-pass membrane protein
- ocalized at the brush border membrane in the kidney.
Alternative names
NPT2C, NPTIIC, SLC34A3, Sodium-dependent phosphate transport protein 2C, Sodium-phosphate transport protein 2C, Na(+)-dependent phosphate cotransporter 2C, Sodium/inorganic phosphate cotransporter IIC, Sodium/phosphate cotransporter 2C, Solute carrier family 34 member 3, Na(+)/Pi cotransporter 2C, NaPi-2c