Biology:Sodium-dependent phosphate transport protein 2C
 Generic protein structure example |
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.[4]
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 hypophophatemic 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).[2]
See also
- SLC34A3+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
References
- ↑ "Growth-related renal type II Na/Pi cotransporter". The Journal of Biological Chemistry 277 (22): 19665–72. May 2002. doi:10.1074/jbc.M200943200. PMID 11880379.
- ↑ 2.0 2.1 "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. doi:10.1086/499410. PMID 16358215.
- ↑ "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. doi:10.1086/499409. PMID 16358214.
- ↑ 4.0 4.1 "Entrez Gene: SLC34A3 solute carrier family 34 (sodium phosphate), member 3". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=142680.
- ↑ "PDZK1: I. a major scaffolder in brush borders of proximal tubular cells". Kidney International 64 (5): 1733–45. November 2003. doi:10.1046/j.1523-1755.2003.00266.x. PMID 14531806.
Further reading
- "Proximal tubular handling of phosphate: A molecular perspective". Kidney International 70 (9): 1548–59. November 2006. doi:10.1038/sj.ki.5001813. PMID 16955105.
- "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. doi:10.1007/s00774-007-0776-6. PMID 17968493.
- "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. doi:10.1085/jgp.200409061. PMID 15504899.
- "PDZK1: I. a major scaffolder in brush borders of proximal tubular cells". Kidney International 64 (5): 1733–45. November 2003. doi:10.1046/j.1523-1755.2003.00266.x. PMID 14531806.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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