Sodium-dependent phosphate transport protein 2C explained

Sodium-dependent phosphate transport protein 2C is a protein that in humans is encoded by the SLC34A3 gene.^{[1] [2] [3] [4]}

Function

SLC34A3 contributes to the maintenance of inorganic phosphate concentration at the kidney.

Interactions

SLC34A3 has been shown to interact with PDZK1.^[5]

Clinical Correlation

A mutation in the SLC34A3 gene has been known to cause the autosomal recessive condition hereditary hypophosphatemic rickets with hypercalciuria. This gene is correlated closely with SLC34A1, an analogue sodium phosphate cotransporter protein. Symptoms include renal phosphate wasting in addition to increase levels of 1,25-dihydroxyvitamin D (yields the hypercalcuria).

Further reading

• Forster IC, Hernando N, Biber J, Murer H . Proximal tubular handling of phosphate: A molecular perspective . Kidney International . 70 . 9 . 1548–59 . November 2006 . 16955105 . 10.1038/sj.ki.5001813 . free .
• Yamamoto T, Michigami T, Aranami F, Segawa H, Yoh K, Nakajima S, Miyamoto K, Ozono K . Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function . Journal of Bone and Mineral Metabolism . 25 . 6 . 407–13 . 2007 . 17968493 . 10.1007/s00774-007-0776-6 . 20210798 .
• Ehnes C, Forster IC, Bacconi A, Kohler K, Biber J, Murer H . Structure-function relations of the first and fourth extracellular linkers of the type IIa Na+/Pi cotransporter: II. Substrate interaction and voltage dependency of two functionally important sites . The Journal of General Physiology . 124 . 5 . 489–503 . November 2004 . 15504899 . 2234003 . 10.1085/jgp.200409061 .
• Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H . PDZK1: I. a major scaffolder in brush borders of proximal tubular cells . Kidney International . 64 . 5 . 1733–45 . November 2003 . 14531806 . 10.1046/j.1523-1755.2003.00266.x . free .

Notes and References

1. Segawa H, Kaneko I, Takahashi A, Kuwahata M, Ito M, Ohkido I, Tatsumi S, Miyamoto K . Growth-related renal type II Na/Pi cotransporter . The Journal of Biological Chemistry . 277 . 22 . 19665–72 . May 2002 . 11880379 . 10.1074/jbc.M200943200 . free .
2. Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM . Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3 . American Journal of Human Genetics . 78 . 2 . 193–201 . February 2006 . 16358215 . 1380229 . 10.1086/499410 .
3. Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H . SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis . American Journal of Human Genetics . 78 . 2 . 179–92 . February 2006 . 16358214 . 1380228 . 10.1086/499409 .
4. Web site: Entrez Gene: SLC34A3 solute carrier family 34 (sodium phosphate), member 3.
5. Gisler SM, Pribanic S, Bacic D, Forrer P, Gantenbein A, Sabourin LA, Tsuji A, Zhao ZS, Manser E, Biber J, Murer H . PDZK1: I. a major scaffolder in brush borders of proximal tubular cells . Kidney International . 64 . 5 . 1733–45 . November 2003 . 14531806 . 10.1046/j.1523-1755.2003.00266.x . free .